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Primitive Reflexes
• reflexes seen in normal newborns
Reflexes • may indicate abnormality (e.g. cerebral palsy) if persist after 4-6 months
• Rooting reflex: infant pursues tactile • Moro reflex
stimuli near the mouth • infant is placed semi-upright, head supported by examiner's hand, sudden withdrawal of
• Parachute reflex: tilting the infant
to the side while in a sitting position supported head with immediate resupport elicits reflex
results in ipsilateral arm extension • reflex consists of abduction and extension of the arms, opening of the hands, followed by
(appears by 6-8 months) flexion and adduction of arms
• Upgoing plantar reflexes (Babinski • absence of Moro suggests CNS abnormality; asymmetry suggests focal motor lesions
sign): is normal in infants (i.e. < 2 yrs)
(e.g. brachial plexus injury)
• Galant reflex
• infant is held in ventral suspension and one side of the back is stroked along paravertebral
line; the pelvis will move in the direction of stimulated side
• grasp reflex: flexion of infant's fingers with the placement of a finger in the infant's palm
• asymmetric tonic neck reflex: turning the head results in the "fencing" posture (extension of
ipsilateral leg and arm and flexion of contralateral leg)
• placing and stepping reflex ("primitive walking"): infant places foot on a surface when it is
brought into contact with it
Routine Immunization
Table 3. Publicly Funded Immunization Schedule for Ontario, August 2011
Vaccine Schedule Route Reaction Contra indications
DTaP-IPV 2, 4, 6, 18 months IM At24-48 h Previous anaphylactic reaction to
4·6 yrs Minor: fever, local redness, swelling, vaccine, evolving unstable neurologic
irritability disease, hyporesponsive/hypotonic
Major: prolonged crying (1 %), following previous vaccine,
hypotonic unresponsive state anaphylactic reaction to neomycin or
(1:1750), seizure (1:1950) on day streptomycin
of vaccine
Prophylaxis: acetaminophen
10-15 mgtkg given 4 h prior to
injection and q4h afterwards
Hib 2, 4, 6, 18 months IM Minor: fever, local redness, swelling,
irritability
Pneu-C-13 2, 4, 12 months IM Minor: fever, local redness, swelling,
irritability
Rot-1 2, 4 months or PO Minor: fever, cough, diarrhea, History of intussusception,
4, 6 months vomiting and irritability infants known or suspected to be
immunocompromised,
Safety of MMR Vaccine especially those with severe combined
According to the CDC, the weight of immunodeficiency, uncorrected
currently available scientific evidence congenital abdominal
does not support the hypothesis that disorders (such as Meckel's
MMR vaccine causes either autism diverticulum), received blood products,
or lBO. including
immunoglobulin, within 42 days
The landmark paper linking autism
to the MMR vaccine (Lancet 1998;
351 (91 03):637-41) was retracted due to MMR* 12 months sc At 7-14 d Pregnancy, immunocompromised
false claims in the article (Lancet 201 0; Fever, measle-like rash, infants (except healthy HIV positive
375(9713):445). lymphadenopathy, arthralgia, children), anaphylactic reaction to
arthritis, parotitis (rare) gelatin
Men-C-C 12 months IM Redness/swelling (< 50%), fever
(9%), irritability (< 80%), rash (0.1 %)
Var* 15 months sc Mild local reaction (20% but higher in Pregnant or planning to get pregnant
immunocompromised) within next 3 months, anaphylactic
Mild varicella-like papules or vesicles reaction to gelatin
(5%)
Low-grade fever (15%)
Hep B 3 doses: 0, 1, 6 months; IM Local redness, swelling Anaphylactic reaction to Baker's yeast
given in some provinces
in grade 7 (given at birth
if at increased risk i.e.
from endemic country,
given with HBig if mother
HBsAg +ve)
MMRV 4·6 yrs sc See above MMR and Var See above MMR and Var
dTap Start at 14-16 yrs IM Anaphylaxis (very rare) Pregnancy (1st trimester)
Td Aduk yrs, q1 Oyrs IM Local erythema and swelling (70%)
Flu** Start at 6-23 months, IM Local tenderness at injection site, Anaphylactic reaction to eggs,
every autumn fever, malaise, myalgia, rash, febrile < 6 months of age
seizures
Hypersensitivity reactions
Toronto Notes 2012 Primary Care Pediatrics Pediatrics P5
Administration of Vaccines
• injection site
• infants (<12 months old): anterolateral thigh
• children: deltoid
• DTaP+IPV+Hib (Pentacel®, Pentavax'"): 5 vaccines given as one IM injection
• two live vaccines (varicella, MMR) must be given subcutaneously either at the same visit or
separated by 4 wks or more
Other Vaccines
Hepatitis A
• inactivated monovalent hepatitis A vaccine (Havrix"', Vaqta"', Avaxim"', Epaxal Berna'")
• given as a series of 2 vaccinations 4-6 months apart
• recommended as pre-exposure prophylaxis for individuals at increased risk of infection (travel
to endemic countries, residents of communities with high endemic rates, IV drug use)
• can also be given as a combination vaccine with Hep B (Twinrix'")
• immunoglobulin can be used for short-term protection in infants and immunocompromised
patients
BCG Vaccine
• infants of parents with infectious TB at time of delivery
• groups/communities with high rates of disease/infection (offered to aboriginal children on
reserves), health care workers at risk
• only given if patient has a negative TB skin test
• side effects: erythema, papule formation 3-6 wks after intradermal injection, enlargement of
regional lymph nodes
Nutrition
Breastfeeding
• colostrum for first few days: clear fluid with nutrients (high protein, low fat) and immunoglobulins
• full milk production by 3-7 d; mature milk by 15-45 d
• support for mothers who want to breast feed should start while in hospital
• signs of inadequate intake: <6 wet diapers per day after first week, sleepy or lethargic, <7 feeds
per day, sleeping throughout the night <6 wks, weight loss > 10% of birth weight, jaundice
• rule of thumb: - 1 stool!d of age for first week
• feeding schedule (newborn baby needs 120 kcal/kg/d)
• premature infants: q2-3h
• term infants: q3.5-4h, (breastfeeding more frequently in first week of life until feeding
established), q5h at night until about 2-3 months of age
• breast-fed babies require the following supplements
• vitamin K (given IM at birth)
• vitamin D (Ddrops'") 400 IU/d, 800 IU/d in northern communities
• fluoride (after 6 months if not sufficient in water supply)
• iron: from 4 months to 12 months (iron fortified cereals or ferrous sulphate solution)
Contraindications to Breastfeeding
• mother receiving chemotherapy or radioactive compounds
• mother with HIVI AIDS, active untreated TB, herpes in breast region
Infant Growth and Outcomes Associated • mother using >0.5 g/kg/d alcohol and/or illicit drugs (decrease milk production and/or directly
with 3 Months Compared with 6Months of toxic to baby)
Exclusive Breastfeeding • mother taking certain medications e.g. antimetabolites, bromocriptine, chloramphenicol, high
The American Journal of Clinical Nutrftion 2003; dose diazepam, ergots, gold, metronidazole, tetracycline, lithium, cyclophosphamide
78:291-295
• note: oral contraceptive pills (OCP) not a contraindication to breastfeeding (estrogen may
Purpose: To compare differences in growth and
in infants exclusively breastfed for 3versus decrease lactation but is not dangerous to infant)
6months.
Study: Observational cohort study with 3483 term Advantages of Breastfeeding
newborns • "Breast is Best" - exclusive breastfeeding during the first 4 months of life is recommended by
Results: The rate of gastrointestinal infections
Health Canada, the Dietitians of Canada, and the Canadian Pediatric Society
was significantly reduced in the group of infants
who were exclusively breastled for 6months. • breast milk is easily digested and has a low renal solute load
This finding was limited to the period between • immunologic
3 and 6months of age !adjusted IDR 0.35195% • IgA, macrophages, active lymphocytes, lysozymes, lactoferrin (lactoferrin inhibits E. coli
Cl: 0.13, 0.96). The breastled babies were growth in intestine)
smaller at 6months but there was no different in • protection is greatest during early months, but is cumulative with increased duration of
growth between the two groups by 12 months.
No significant association was found between
breastfeeding
breastfeeding and the rate of eczema or respirat01y • lower allergenicity (decreased cow's milk protein allergy and eczema)
infections. • lower pH promotes growth oflactobacillus in the gastrointestinal tract (protective against
Conclusions: There is an association between pathogenic intestinal bacteria)
breastfeeding and alower incidence of • parent -child bonding, economical, convenient
gastrointestinal infections in term infants.
Complications of Breastfeeding
• mother
• sore/cracked nipples: treat with warm compresses, massage, frequent feeds, soothing barrier
creams (Desitin'", Vaseline'"), proper latching technique
• breast engorgement (usually in first week): continue breastfeeding and/or pumping
• mastitis (usually due to S. aureus): treat with cold compresses between feeds, cloxacillin for
mother, continue nursing, ± incision and drainage
• infant
• breastfeeding jaundice (first 1-2 wks): due to lack of milk production and subsequent
dehydration (see Jaundice, P70), likely a mechanical problem
• breast milk jaundice: rare (0.5% of newborns, persists up to 4-6 months); not fully
understood, thought to be due to substances in breast milk that inhibit conjugation of
bilirubin or increased enterohepatic circulation of bilirubin, likely a biochemical problem
• poor weight gain: consider dehydration or failure to thrive
• oral candidiasis (thrush): check baby's mouth for white cheesy material that does not scrape
off; treat baby with antifungal such as nystatin (Mycostatin'") (treat mother topically to
prevent transmission)
Toronto Notes 2012 Primary Care Pediatrics Pediatrics P7
Alternatives to Breastfeeding
Infant Feeding
Definition
• weight <3rd percentile, or falls across two major percentile curves, or <80% of expected weight
Upper to Lower (U!L) Segment Ratio for height and age
is...
Increased in achondroplasia, short
• inadequate caloric intake most common factor in poor weight gain
limb syndromes, hypothyroid, storage • may have other nutritional deficiencies (e.g. protein, iron, vitamin D)
diseases. • history
Decreased in Marfan's, Klinefelter's, • duration of problem and growth history
Kallman's syndromes, and testosterone • detailed dietary and feeding history, appetite, behaviour before and after feeds, bowel habits
deficiency.
• pregnancy, birth, and postpartum history; developmental and medical history (including
medications); social and family history (parental height, weight, growth pattern)
• assess 4 areas offunctioning: child's temperament, child-parent interaction, feeding
behaviour and parental psychosocial stressors
Calculating Upper to Lower (U!L) • physical exam
Segment Ratio
Upper segment: Top of head to pubic
• height (Ht), weight (Wt), head circumference (HC), arm span, upper-to-lower (U/L)
symphysis. segment ratio
Lower segment: Pubic symphysis to • assessment of nutritional status, dysmorphism, Tanner stage, evidence of chronic disease
floor. • observation of a feeding session and parent-child interaction
U/L: upper segment/lower segment. • signs of abuse or neglect
Toronto Notes 2012 Primary Care Pediatrics Pediatrics P9
Obesity
• a quarter of Canadian children ages 2-17 are overweight or obese; 8% are obese (2004)
Definition
• BMI >95th percentile for age and height
• caused by a chronically positive energy balance (intake exceeds expenditure)
Risk Factors
• genetic predisposition:
• if one parent is obese - 40% chance of obese child
• if both parents are obese- 80% chance of obese child
• genetic heritability accounts for 25-40% of juvenile obesity
Clinical Presentation
• history: diet, activity, family heights and weights, growth curves
• body mass index (BMI) tends not to be used by pediatricians prior to adolescence
• physical examination: may suggest secondary cause (e.g. Cushing syndrome
• organic causes are rare (<5%)
• genetic: e.g. Prader-Willi, Carpenter, Turner syndromes
• endocrine: e.g. Cushing syndrome, hypothyroidism
PIO Pediatrics Primary Care Pediatrics Toronto Notes 2012
Milk Caries
• decay of superior front teeth and back molars in first 4 yrs oflife
• often occur in children put to bed with a bottle of milk or juice
• can also be caused by breastfeeding (especially prolonged night feeds)
• prevention
• no bottle at bedtime (unless plain water)
• use water as thirst quenchers during the day, do not sweeten pacifier (> 1 yr)
• can clean teeth with soft damp cloth or toothbrush and water
• avoid fluoridated toothpaste until able to spit (>3 yrs) due to fluorosis risk (stains teeth)
• Canadian Dental Association recommends assessment by dentist 6 months after eruption of
first tooth, or by 1 yr of age
Toronto Notes 2012 Primary Care Pediatrics Pediatrics Pll
Poison Prevention
• keep all types of medicines, vitamins, and chemicals locked up in a secure container
• potentially dangerous: drugs, drain cleaners, furniture polish, insecticides, cosmetics, nail polish
remover, automotive products
• do not store any chemicals in juice, soft drink, or water bottles
• keep alcoholic beverages out of reach: 3 oz hard liquor can kill a 2-yr-old
• always read label before administering medicine to ensure correct drug and dose
Prevention
• "Back to Sleep, Front to Play"
• place infant on back, NOT in prone position when sleeping
• allow supervised play time daily in prone position
• alarms/other monitors not recommended- increase anxiety and do not prevent life-threatening
events
• avoid overheating and overdressing
• appropriate infant bedding (firm mattress, avoid loose bedding and crib bumper pads)
• no smoking
• risks associated with bedsharing include sleeping on a sofa, sleeping with an infant after
consumption of alcohol or street drugs, infant sleeping with someone other than primary
caregiver
• pacifiers appear to have a protective effect; do not reinsert if falls out
P12 Pediatrics Primary Care Pediatrics Toronto Notes 2012
Circumcision
o elective procedure to be performed only in healthy, stable infants
o contraindicated when genital abnormalities present (e.g. hypospadias) or known bleeding
disorder
o usually performed for social or religious reasons (in Ontario, not covered by OHIP)
o complications (<1%): local infection, bleeding, urethral injury
o medical benefits include prevention of phimosis, slightly reduced incidence of UTI, balanitis,
cancer of the penis
o 2 RCTs (Lancet 369, Feb 2007) suggest routine circumcision significantly reduces HIV
transmission (studies conducted in high endemic areas, i.e. Africa); circumcision also appears to
reduce HPV transmission
o routine circumcision is not currently recommended by the CPS or AAP
Toilet Training
o 90% of kids attain bowel control before bladder control
o generally females train earlier than males
o 25% by 2 yrs old (in North America), 98% by 3 yrs old have daytime bladder control
o signs of toilet readiness:
• ambulating independently, stable on potty, desire to be independent or to please caregivers
(i.e. motivation), sufficient expressive and receptive language skills (2-step command level),
can stay dry for several hours (large enough bladder)
Elimination Disorders
ENURESIS
o involuntary urinary incontinence by day and/or night in a child age 5 or older
o wetting at least twice a week for at least 3 consecutive months or causing significant distress to
the child
o treatment should not be considered until 6 yrs of age; high rate of spontaneous cure
o should be evaluated if >6 yrs old; dysuria; change in gross colour, odour, stream; secondary or
diurnal
o treatment:
• time and reassurance (- 20% resolve spontaneously each year)
• behaviour modification (limiting fluids, voiding prior to sleep), engage child with rewards,
bladder retention exercises; scheduled toileting have limited effectiveness
• conditioning: "wet" alarm wakes child upon voiding (70% success rate)
• medications (considered second line therapy): DDAVP by nasal spray or oral tablets (high
relapse rate, costly), imipramine (Tofranil®) (rarely used, lethal if overdose, cholinergic side
effects)
Secondary Enuresis
o develops after child has sustained period of bladder control (6 months or more)
o nonspecific regression in the face of stress or anxiety (e.g. birth of sibling, significant loss, family
discord)
o may also be secondary to UTI, DM, DI, neurogenic bladder, cerebral palsy (CP), sickle cell
Diurnal Enuresis
o daytime wetting (60-80% also wet at night)
o most common cause: micturition deferral (holding urine until last minute)
o may also result from psychosocial stressors, rule out structural anomalies (e.g. ectopic ureteral
ENCOPRESIS
o fecal incontinence in a child >4 yrs old, at least once per month for 3 months
o prevalence: 1-1.5% of school-aged children (rare in adolescence); M:F = 6:1 in school-aged children
o usually associated with chronic constipation
Retentive Encopresis
o causes
• physical: anal fissure (painful stooling)
• emotional: disturbed parent -child relationship, coercive toilet training, social stressors
o history
• child withholds bowel movement, develops constipation, leading to fecal impaction and
seepage of soft or liquid stool (overflow incontinence)
• crosses legs or stands on toes to resist urge to defecate
• distressed by symptoms, soiling of clothes
• toilet training coercive or lacking in motivation
• may show oppositional behaviour
o physical exam
• complete clean-out of bowel- PEG 3350 given orally is most effective, enemas and
suppositories may be second line therapies but these are invasive and often less effective
• maintenance of regular bowel movements (see Pediatric Gastroenterology, Constipation
Treatment, P40)
• assessment and guidance regarding psychosocial stressors
• behavioural modification
o complications: continuing cycle, toxic megacolon (requires >3-12 months to treat), bowel
perforation
Sleep Disturbances
Types of Sleep Disturbances
o insufficient sleep quantity
o always sleep in bed, in a dark, quiet and comfortable room, without associations
Nightmares
o prevalence: common in boys, 4-7 yrs old
o treatment: reassurance
P14 Pediatrics Primary Care Pediatrics Toronto Notes 2012
Night Terrors
o prevalence: 15% of children have occasional episodes
Breath-Holding Spells
o occur in 0.1-5% of healthy children 6 months-4 yrs of age
o spells usually start during first year of life
o 2 types
• cyanotic (more common), usually associated with anger/frustration
• pallid, usually associated with pain/surprise
o child is provoked (usually by anger, injury or fear), starts to cry and then becomes silent
o spell resolves spontaneously or the child may lose consciousness; rarely progresses to seizures
o treatment: behavioural - help child control response to frustration and avoid drawing attention
to spell; avoid being too permissive in fear of precipitating a spell
o trauma
Physical Examination
o perform a thorough head-to-toe exam with the child completely undressed
Dermatology
Table 10. Common Paediatric Rashes
Type of Rash Differential Appearance
Diaper Dermatitis Irritant contact dermatitis Shiny, red macules/patches, no flexural involvement
Seborrheic dermatitis Yellow, greasy macules/plaques on erythema, scales
Candida! dermatits Erythematous macerated papules/plaques, satellite lesions
Other Dermatitis Atopic dermatitis Erythematous papules/plaques, oozing, excoriation,
lichenification, classic areas of involvement
Nummular dermatitis Annular erythematous plaques, oozing, crusting
Allergic contact dermatitis Red papules/plaques/vesicles/bullae, only in area of allergen
Irritant contact dermatitis Morphology depends on irritant
Dyshidrotic dermatitis Papulovesicular, cracking/fissuring, hands and feet j"Tapioca
pudding")
Seborrheic dermatitis See above, sebaceous areas such as nasolabial folds and
scalp
Papulosquamous Eruptions Psoriasis Erythematous plaques with silvery scales, nail pitting/
onycholysis
Pityriasis rosea Salmon·pink plaques, herald patch with smaller papules
("Christmas tree" pattern)
Infectious Scabies Polymorphic (red excoriated papules/nodules, burrows), in
web spaces/folds, very pruritic
Impetigo Honey-coloured crusts or superficial bullae
Tinea corporis Round erythematous plaques, central clearing and scaly
border
Pediatric Exanthems (see Dermatology, D38)
Drug Reactions (see Dermatology, D21)
Acne (see Dermatology, D11)
Risk Factors
• environmental factors
• social isolation
• poverty
• domestic violence
• caregiver factors
• parents were abused as children
• psychiatric illness
• substance abuse
• single parent family
• poor social and vocational skills, below average intelligence
• child factors
• difficult temperament
• disability, special needs (e.g. developmental delay)
• premature
P16 Pediatrics Child Abuse and Neglect Toronto Notes 2012
Sexual Abuse
• prevalence: 1 in 4 females, 1 in 10 males (worldwide)
• peak ages at 2-6 and 12-16 yrs
• most perpetrators are male and known to child
• in decreasing order: family member, non-relative known to victim, stranger
• presentation
• disclosure: diagnosis usually depends on child telling someone
• psychosocial: specific or generalized fears, depression, nightmares, social withdrawal, lack
oftrust, low self-esteem, school failure, sexually aggressive behaviour, advanced sexual
knowledge, sexual preoccupation or play
• physical signs: recurrent UTis, pregnancy, STis, vaginitis, vaginal bleeding, pain, genital
injury, enuresis
• investigations depend on presentation, age, sex, and maturity of child
• sexual assault examination kit within 24 h if prepubertal, within 72 h if pubertal
• rule out STI, UTI, pregnancy (consider STI prophylaxis or morning after pill)
• rule out other injuries (vaginal/anal/oral penetration, fractures, head trauma)
Adolescent Medicine
Normal Sexual Development
• puberty occurs with the maturation of the hypothalamic-pituitary-gonadal axis
• increases in the pulsatile release of gonadotropin hormone (GnRH) -7 increased release of LH t•
and FSH -7 maturation of gonads and release of sex steroids -7 secondary sexual characteristics Adolescent Psychosocial Assessment
• also requires adrenal production of androgens
HEEADSSS
Home
Females Education/Employment
• occurs between age 8-13 yrs (may start early as 6 yrs girls of African descent) Eating
• usual sequence Activities
Drugs
• thelarche: breast budding (breast asymmetry may occur as one breast may grow faster than Sexuality
the other; becomes less noticeable as maturation continues) Suicide and depression
• adrenarche: axillary hair, body odour, mild acne Safety
• growth spurt
• menarche: mean age 13 yrs; occurs 2 yrs after breast development and indicates that growth
spurt is almost complete (Tanner Stage 4)
• early puberty is common and often constitutional, late puberty is rare
Males
• occurs between age 9-14 yrs (starts 1 year later than in girls)
• usual sequence
• testicular enlargement
• penile enlargement: occurs at Tanner Stage 4
• adrenarche: axillary and facial hair, body odour, mild acne
• growth spurt: occurs later in boys (Tanner Stage 4)
• early puberty is uncommon (need to rule out organic disease) but late puberty is common and
often constitutional
FEMALE BREAST
Stage 1: Papilla elevation Stage 2: Breast and Stage 3: Enlargement of Stage 4: Areola and Stage 5: Mature, nipple
only papilla elevated as small breast and areola, no papilla form secondary projects, no secondary
mound, enlargement of contour separation mound mound
areola
FEMALE GENITAL
(r
Stage 1: No hair,
prepubertal
Stage 2: Small amount
of long, straight or curted,
Stage 3: Darker, coarser,
curlier hair distributed
y
Stage 4: Adult-type hair,
no extension to medial
Stage 5: Mature
distribution with spread
slightly pigmented hair sparsely over pubis. thighs. Increase in penile to medial thighs. Adult
along base of penis. Lengthening of penis, circumference and length, size
Enlargement of testes further enlargement of development of glans,
and scrotum, reddening testes and scrotum further enlargment of
of scrotal skin testes and scrotum,
darkening of scrotal skin © Diego Accorsi 2011
Physiologic Leukorrhea
• occurs in the 6 months prior to menarche; scant mucoid, clear to milky vaginal discharge, not
associated with pruritis or foul odour
• due to stimulation of endometrial glands by estrogen
Irregular Menstruation
• menses may be irregular in duration and length of cycle
• on average it takes 18 months to go through the first 12 periods
• birth control pills should be avoided as treatment
Premature Adrenarche
• usually develops in boys and girls before the age of 6, benign self-limiting condition
• adrenal production ofDHEAS (precursor of androstenedione, testosterone and estrogen)
reaches pubertal levels at an earlier age
• pubic and axillary hair, body odour, mild acne
• determine whether other signs of puberty are present (girls - thelarche; boys - testicular
enlargement)
• exclude androgen secreting tumours (investigations: DHEAS levels, androstenedione,
testosterone, bone age)
Gynecomastia
• transient development of breast tissue in boys
• common self-limited condition seen in 50% of male adolescents during puberty
• must distinguish true breast tissue from fat: 1-3 em round, mobile, sometimes tender, firm mass
under areola
• discharge from nipple or fixed mass should be investigated
Cardiology
Heart Murmurs
• 50-80% of children have audible heart murmurs at some point in their childhood
• most childhood murmurs are functional (e.g. "innocent") without associated structural
abnormalities and have normal ECG and radiologic findings
• in general, murmurs can become audible or accentuated in high output states, e.g. fever, anemia
Before Birth
o fetal lungs bypassed by flow through fetal shunts:
At Birth
o with first breath, lungs open up and pulmonary resistance decreases allowing pulmonic blood
flow
o with separation oflow resistance placenta, systemic circulation becomes a high resistance system
o increased oxygen concentration in blood after first breath leads to decreased prostaglandins
leading to closure of the ductus arteriosus
Embryologic Development
o most critical period of fetal heart development is between 3-8 wks gestation
o single heart tube grows rapidly forcing it to bend back upon itself and begin to assume the shape
Epidemiology
o 8/1,000 live births can present with heart murmur, heart failure, or cyanosis
Investigations
• echo, ECG, CXR
.. I
•• .. I
••
• •
L-> R shunt Obstructive R -> L shunt Other
Tetralogy of Fallot
1. Ventricular septal defect (VSO)
2. Right ventricular outflow tract obstruction (RVOTO)
3. Overriding aortic root
4. Righ ventricular hypertrophy (RVH)
Coarctation of the Aorta Tetralogy of Fallot (TDF)
• Moderate-to-large VSD
• natural history: secondary pulmonary hypertension, CHF by 2 months of age
• history: delayed growth and development, decreased exercise tolerance, recurrent URTis or
"asthma" episodes, CHF
• physical exam: holosystolic murmur at LLSB with thrill, mid-diastolic rumble at apex, size of Moderate-to-large VSD
VSD is inversely related to intensity of murmur Size of VSD is inversely related to
intensity of murmur.
• investigations:
• ECG: left ventricular hypertrophy (LVH), left atrial hypertrophy (LAH), RVH
• CXR: increased pulmonary vasculature, cardiomegaly, CHF
• treatment: treatment of CHF and surgical closure by 1 yr of age
common AV valve
o commonly associated with Down syndrome
o treatment
• natural history depends on size of defect and valvular involvement, and should be repaired
by age 6 months to prevent development of pulmonary hypertension
• complete AV canal requires early complete surgical repair, preferably before 3 months of age
2. OBSTRUCTIVE LESIONS
o present with pallor, decreased urine output, cool extremities and poor pulses, shock or
sudden collapse
o commonly associated with bicuspid aortic valve (SO%); Turner syndrome (35%)
o few have high BP in infancy (160-200 mmHg systolic) but this decreases as collaterals develop
o if severe, presents with shock in the neonatal period when the ductus closes
o physical exam: upper extremity systolic pressures of 140-145 mmHg, decreased blood pressure
and weak/absent pulses in lower extremities, radial-femoral delay, absent or systolic murmur
with late peak at apex, left axilla, and left back
o investigations: ECG- RVH early in infancy, LVH later in childhood
o prognosis and treatment
• if associated with other lesions (e.g. PDA, VSD) can cause CHF
• complications: hypertension
• management: give prostaglandins to keep ductus arteriosus patent for stabilization, balloon
arterioplasty or surgical correction in symptomatic neonate
Aortic Stenosis
o valvular (75%), subvalvular (20%), supravalvular and idiopathic hypertrophic subaortic stenosis
(IHSS) (5%)
o history: often asymptomatic but may be associated with CHF, exertional chest pain, syncope or
sudden death
o physical exam: SEM at right upper sternal border (RUSB) with aortic ejection click at the apex
o treatment
• surgical repair if infant with critical aortic stenosis or older child with symptoms or peak
gradient >50 mmHg
• exercise restriction required
Pulmonary Stenosis
o valvular (90%), subvalvular, or supravalvular
o usually part of other congenital heart lesions (e.g. Tetralogy ofFallot) or in association with
o investigations
• ECG:RVH
• CXR: dilated post-stenotic pulmonary artery
o treatment: surgical repair if critically ill or severe PS, or if presence of symptoms in older
infants/ children
Tetralogy of Fallot
• 10% of all CHD, most common cyanotic heart defect diagnosed beyond infancy
• embryologically, a single defect with hypoplasia of the conus causing: Tetralogy of Fallot
• VSD 1. Ventricular septal defect IVSD)
• right ventricle (RV) outflow tract obstruction (RVOTO) (e.g. pulmonary stenosis) 2. Right ventricular outflow tract
• overriding aorta obstruction IRVOTD)
3. Aortic root "overriding" VSD
• RVH 4. Right ventricular hypertrophy
• degree of RVOTO directly determines the direction and degree of shunt and therefore the extent • See Figure 2, P20
of clinical cyanosis and degree of RVH
• infants may initially have a L R shunt and therefore are not cyanotic but the RVOTO is
progressive, resulting in increasing R L shunting with hypoxemia and cyanosis
• history: hypoxic "tet" spells
• primary pathophysiology is hypoxia, leading to increased pulmonary vascular resistance
(PVR) and decreased systemic resistance, occurring in exertional states (e.g. crying, exercise)
• paroxysm of rapid and deep breathing, irritability and crying
• hyperpnea, increasing cyanosis often leading to deep sleep and decreased intensity of
murmur (decreased flow across RVOTO)
• peak incidence at 2-4 months of age
• if severe may lead to seizures, loss of consciousness, death (rare)
• management: 0 2, knee-chest position, fluid bolus, morphine sulfate, propanolol
• physical exam: single loud S2 due to severe pulmonary stenosis (i.e. RVOTO)
• investigations
• ECG: RAD, RVH
• CXR: boot shaped heart (small PA, RVH), decreased pulmonary vasculature, right aortic
arch (in 20%)
• treatment: surgical repair within first two yrs oflife, or earlier if marked cyanosis, "tet" spells, or
severe RV outflow tract obstruction
Ebstein's Anomaly
• congenital defect of the tricuspid valve in which the septal and posterior leaflets are malformed
and displaced into the RV leading to variable degrees ofRV dysfunction, TS, TR or functional
pulmonary atresia ifRV unable to open pulmonic valves
• RA massively enlarged, interatrial communication and patent foramen ovale (PFO) often exists
allowing R L shunting
• TR and accessory conduction pathways (WPW) are often present - often associated with
arrhythmia
• cause: unknown, associated with maternal lithium and benzodiazepine use in 1st trimester
• treatment
• in newborns, consider closure of tricuspid valve + aortopulmonary shunt, or transplantation
• in older children, tricuspid valve repair or valve replacement + ASD closure
o characterized by all of the pulmonary veins draining into the right -sided circulation
(supracardiac- SVC or innominate vein, infracardiac- hepatic/portal vein or IVC,
intracardiac - coronary sinus or RA)
o no direct oxygenated pulmonary venous return to left atrium
o often associated with obstruction at connection sites
o an ASD must be present to allow blood to shunt into the LA and systemic circulation
o treatment: surgical repair if severe cyanosis or CHF related to pulmonary venous obstruction
Truncus Arteriosus
o a single great vessel arising from the heart which gives rise to the aorta, pulmonary and
coronary arteries
o the truncal valve overlies a large VSD
Etiology
o CHD
o cardiomyopathy
o arrhythmias
o acute hypertension
o anemia
o cor pulmonale
o myocarditis
Symptoms
4 Key Features of CHF
o infant: feeding difficulties, easy fatiguability, exertional dyspnea, diaphoresis when sleeping or
2 Tachy's and 2 Megaly's
Tachycardia eating, respiratory distress, lethargy, cyanosis, FTT
Tachypnea o child: decreased exercise tolerance, fatigue, decreased appetite, failure to thrive, respiratory
Cardiomegaly distress, frequent URTis or "asthma'' episodes
Hepatomegaly
o orthopnea, paroxysmal nocturnal dyspnea, pedal/dependent edema are all NOT common in
children
Physical Findings
o four key features: tachycardia, tachypnea, cardiomegaly, hepatomegaly
Pharmacologic Management of CHF
3D's o FTT
Diuretics o respiratory distress, gallop rhythm, wheezing, crackles, cyanosis, clubbing (with CHD)
Digoxin o alterations in peripheral pulses, four limb blood pressures (in some CHDs)
Afterload Decreasers
o dysmorphic features associated with congenital syndromes
Management
o correction of underlying cause
o general: sitting up, 0 2, sodium and water restriction, increased caloric intake
o pharmacologic: diuretics, digoxin, afterload reducers
Toronto Notes 2012 Cardiology Pediatrics P25
Infective Endocarditis
• see Infectious Diseases, ID 14
• 70% Streptococcus, 20% Staphylococcus (S. aureus, S. epidermidis)
• serial positive cultures are needed for definitive diagnosis, but rely on clinical suspicion and
other investigations if initially negative (i.e. use echo to look for vegetations)
• 10-15% of cases are culture negative, this is a risk factor for poor prognosis
• Osler's nodes, Janeway lesions, splinter hemorrhages are late findings in children
• antibiotic prophylaxis is necessary for all patients with:
• cyanotic congenital heart disease (including Tetralogy of Fallot, TGA, Ebstein's anomaly,
total anomalous pulmonary venous return)
• rheumatic valve lesions (except if no valve dysfunction)
• prosthetic heart valves
• palliative shunts and conduits
• previous endocarditis
• pacemakerleads
• prophylaxis: amoxicillin 50 mg/kg 30 to 60 min before procedure (if allergic to penicillin, then
use clindamycin 20 mg/kg)
• high risk patients for GI!GU procedures may receive 2 doses ampicillin + gentamycin IV (30
min before procedure and 6 h later)
Dysrhythmias
• see Cardiology
• can be transient or permanent, congenital (structurally normal or abnormal) or acquired (toxin,
infection, infarction) Podiatric vs. Adult ECG
Pediatric ECG findings that may be
Sinus Arrhythmia normal:
oHR>lOObpm
• phasic variations with respiration o Shorter PR, QT intervals and QRS
• present in almost all normal children duration
o Inferior and lateral small Q waves
o RV larger than LV in neonates, so
Premature Atrial Contractions (PACs)
normal to have:
• may be normal variant or can be caused by electrolyte disturbances, hyperthyroidism, cardiac • Right axis deviation
surgery, digitalis toxicity • Large precordial R waves
• Upright Twaves
Premature Ventricular Contractions (PVCs)
• common in adolescents
• benign if single, uniform, disappear with exercise, and no associated structural lesions
• if not benign, may degenerate into more severe dysrhythmias
Development
Developmental Delay
• developmental delay is defined as performance significantly below average in a given area (i.e.
gross motor, fine motor, language, cognitive)
Epidemiology
• 5-10% of children have neurodevelopmental delay
• may have isolated delays in specific areas (motor, speech/language), or global delays
Etiology
• genetic/chromosomal disorders (Down syndrome, Fragile X)
• intrapartum asphyxia
• CNS abnormalities (meningitis/encephalitis, TORCH infections, structural)
• metabolic disorders (inborn errors of metabolism, hypothyroidism)
• environmental (psychosocial neglect, lead exposure, antenatal drug or alcohol exposure)
Approach
• detailed history
• intrauterine exposures, perinatal events
• family history, consanguinity
• detailed developmental milestones - rate of acquisition, regression of skills
• associated problems (feeding, seizures, behaviour, sleep)
• social history
• physical examination
• dysmorphology, hepatosplenomegaly, neurocutaneous markers, growth parameters, detailed
neurological examination
• ancillary testing
• neurodevelopmental assessment, hearing test, psychosocial evaluation, occupational therapy
and/or physiotherapy assessments, genetics consultation
• laboratory testing
• target testing based on history and physical exam
• chromosomes, FISH, neuroimaging, metabolic testing, neuroelectophysiologic testing
Intellectual Disability
• also referred to as mental retardation or developmental disability
Epidemiology
• 1% of general population; M:F = 1.5:1
• higher rates of sensory deficits, motor impairment, behavioural/emotional disorders, seizures,
psychiatric illness
Etiology
• genetic: Down syndrome, Fragile X, PKU, other chromosomal disorders, developmental
brain abnormality, inborn errors of metabolism
• prenatal: rubella, fetal alcohol syndrome, prenatal exposure to heroin, cocaine, TORCH
infections, HIV, maternal DM, toxemia, maternal malnutrition, birth trauma/hypoxia
• perinatal: prematurity, low birth weight, cerebral ischemia, intracranial hemorrhage,
maternal deprivation
• childhood: intracranial infection, head trauma, FTT, lead poisoning
• psychosocial factors: mild intellectual disabillity associated with low socioeconomic status,
limited parental education, parental neglect, teen pregnancy, family instability
Diagnosis
• below average general intellectual functioning as defined by an IQ of approximately QQ (2
standard deviations below the mean) AND:
• deficits in adaptive functioning in at least two of:
• communication, self-care, home-living, social skills, self-direction, academic skills, work,
leisure, health, safety
• onset before 18 yrs of age
Toronto Notes 2012 Development Pediatrics P27
Treatment
• main objective: enhance adaptive functioning level
• therapy
• emphasize community-based treatment vs. institutionalization and early intervention
• individual/family therapy, behaviour modification (to decrease aggressive/distracting
behaviours), multidisciplinary rehabilitation, medications for associated conditions
• education: life skills, vocational training, communication skills, family education
• psychosocial support of parents and respite care
Language Delay
Differential Diagnosis
• hearing impairment
• spectrum of impairment - slight to profound loss
• language development may seem normal for up to 6 months (including cooing and babbling)
but may regress due to lack of feedback
• risk factors for sensorineural hearing loss (> 1 risk factor warrants infant screening, if
newborn screening not available in jurisdiction for all newborns):
• genetic syndromes/family history
• congenital (TORCH) infections
• craniofacial abnormalties
• <1,500 g birthweight
• hyperbilirubinemia/kernicterus
• asphyxia/low APGAR scores
• bacterial meningitis, viral encephalitis
• to evaluate hearing loss in children:
• <6 months old: auditory brainstem response (ABR), tympanometry (impedance testing),
evoked potentials
• >6-8 months old: behaviour audiometry
• >3-4 yrs old: pure tone audiometry
• cognitive disability
• global developmental delay, mental retardation
• both receptive and expressive language components affected
• child often has interest in communication
• pervasive developmental disorder (PDD), including autism
• poor social interaction and language impairment, stereotypical behaviours
• selective mutism
• a childhood anxiety disorder with onset age 5-6
• only speaks in certain situations, usually at home
• healthy children with no hearing impairment
• often above-average intelligence
• Landau-Kleffner syndrome (acquired epileptic aphasia)
• presents in late preschool to early school age years, may be similar to autism
• child begins to develop language normally, then sudden regression oflanguage
• child has severe aphasia with EEG changes, often has overt seizure activity
• mechanical problems
• cleft palate
• cranial nerve palsy
• social deprivation
Management
• ENT and dental referral if mechanical cause
• speech therapy in disorders of fluency, receptive or expressive language
• psychiatric consultation in selective mutism, PDD
P28 Pediatrics Development Toronto Notes 2012
Learning Disorders
Definition
• a specific and persistent failure to acquire academic skills despite conventional instruction,
adequate intelligence, and sociocultural opportunity
• a significant discrepancy between a child's intellectual ability and his or her academic
performance
Epidemiology
• prevalence: 2-10%
• psychiatric comorbidity = 10-25% of individuals with dysthymia, conduct disorder (CD), major
depressive disorder (MDD), oppositional defiant disorder (ODD), attention deficit hyperactivity
disorder (ADHD)
Diagnosis
• categorized by
• individual scores on achievement tests in reading, mathematics or written expression (WISC
III, WRAT) significantly below (>2 SD) that expected for age, education, and IQ
• interferes with academic achievement or ADLs that require reading, mathematics, or writing
skills
• types: reading, mathematics, disorders of written expression
• rule out occult seizure disorder, sensory impairments
Complications
• low self-esteem, poor social skills
• 40% school drop-out rate
Epidemiology
• prevalence ofFAS and FASD is 0.1 and 1.0% respectively
• most common preventable cause of intellectual disability
Diagnosis
• often misdiagnosed or missed entirely
• early diagnosis is essential to prevent secondary disabilities
• individuals with FASD and their families should be linked to community resources and services
to improve outcome
• criteria for diagnosis of FAS (most severe form of FASD)
a) growth deficiency -low birth weight and/or decelerating weight over time not due to nutrition
b) characteristic pattern of facial anomalies - short palpeberal fissures, flattened philtrum, thin
upper lip, flat midface
c) central nervous system dysfunction- microcephaly and/or neurobehavioural dysfunction
(e.g. hyperactivity, fine motor problems, attention deficits, learning disabilities, cognitive
disabilities)
d) evidence of maternal drinking during pregnancy
• criteria for diagnosis of ARBD
a) congenital anomalies, including malformations and dysplasias - includes cardiac, skeletal,
renal, ocular, auditory anomalies
b) evidence of maternal drinking during pregnancy
• criteria for diagnosis of ARND
a) central nervous system dysfunction (similar to FAS)
b) complex pattern of behavioural or cognitive abnormalities inconsistent with developmental
level that cannot be explained by familial background or environment alone
c) evidence of maternal drinking during pregnancy
Complications
• secondary disabilities include unemployment, mental health problems, trouble with the law,
inappropriate sexual behaviour, disrupted school experience, peer problems
Toronto Notes 2012 Endocrinology Pediatrics P29
Endocrinology
tight control, hence target glucose range higher at 6-12 mmol/L (110-220 mg/dL)
o increasingly tighter control in older children, 4-8 mmol/L (70-140 mg/dL)
o continuous subcutaneous insulin infusion ( CSII) pump
• contains a cartridge full of short-acting insulin (Lispro '") or a syringe connected to a catheter Blood Glucose Targets by Age
that is inserted into the subcutaneous tissue Age Pre-meal blood HbA1c
• continuously delivers predetermined basal rates to meet nonprandial insulin requirements range glucose target target
• bolus infusion to cover meal time or snack time insulin requirements
<6 5.6-10.0 (100-180) 7.5-8.5%
• requires as much or more blood glucose monitoring when compared to injections ± ketone
monitoring - patients must be highly motivated 6-12 5.0-10.0 (90-180) <8%
• allows for tighter glycemic control > 12 5.0-7.2 (90-130) < 7.5%
• risk of DKA with operator or mechanical failure (catheter occlusion, battery failure, depleted
insulin)
TYPE 2 DIABETES
o these patients tend to be obese and present with glycosuria without ketonuria, absent or mild
Treatment
o ill child with ketosis: insulin
o well child without ketosis: diet, exercise, oral agents
Diagnosis
o symptoms: polyuria, enuresis, nocturia, polydipsia, dehydration
o labs: dilute urine (SG <1.010), hypernatremia, elevated serum osmolality, low urine osmolality
o water deprivation test; central cause if> SO% change in urine osmolality after ADH administration
Management
o central: DDAVP intranasally, SC or PO
Hypercalcemia/Hypocalcemia/Rickets
o see Endocrinology, E38, E40, E45
Hypothyroidism
o see Endocrinology, E26
Congenital Hypothyroidism
o incidence: 1 in 4000 births; F:M=2:1
o usually caused by malformation of the thyroid gland (agenesis or ectopic), maternal factors also
Acquired Hypothyroidism
o most commonly Hashimoto's thyroiditis (autoimmune destruction of the thyroid)
Thyroid neoplasms that develop in o signs and symptoms similar to hypothyroidism in adults, but also:
childhood have a higher rate of being • delayed bone age, decline in growth velocity, short stature, goiter
malignant; be suspicious of rapid and
painless enlargement of the thyroid • sexual pseudoprecocity: early sexual development with short stature and delayed bone age
gland. • does not cause permanent developmental delay
o treated with L-thyroxine 10 flg/kg/d
Toronto Notes 2012 Endocrinology Pediatrics P31
Hyperthyroidism
• see Endocrinology, E22
Congenital Hyperthyroidism
• results from transplacental passage of maternal thyroid stimulating antibodies (mother with
Graves' disease)
• clinical manifestations may be masked if mother on antithyroid treatment
• presentation: tachycardia with congestive heart failure, irritability, craniosynostosis, poor
feeding, failure to thrive, heart murmur, goitre
• spontaneous resolution by 2-3 months of life as antibodies cleared
• management: propylthiouracil (PTU) until antibodies cleared, symptomatic treatment
Graves' Disease
• peak incidence in adolescence; F:M = 5:1
• may exhibit classic signs and symptoms of hyperthyroidism, especially ophthalmopathy, but also
personality changes, school difficulty, mood instability
• management similar to adults: anti-thyroid drugs (PTU, methimazole), propanolol for severe/
cardiac manifestation, radioiodine reserved for older teens, surgical thyroidectomy
• children with a solitary thyroid nodule require prompt evaluation as 30-40% have carcinoma;
remainder have an adenoma, abscess, cyst, or multinodular goiter
Ambiguous Genitalia
Etiology
• male pseudohermaphrodite (XY)
• inborn error of testosterone biosynthesis or Leydig cell hypoplasia
• S-a-reductase deficiency, androgen receptor deficiency or insensitivity
• luteinizing hormone (LH)/hCG unresponsiveness
• small phallus, hypospadias, undescended testicles
• female pseudohermaphrodite (XX)
• virilizing congenital adrenal hyperplasia (CAH) (most common)
• maternal source: virilizing ovarian or adrenal tumours, untreated maternal CAH, placental
aromatase deficiency
• virilization of external genitalia - clitoral hypertrophy, labioscrotal fusion
• mixed pattern
• true hermaphrodite
• both ovarian follicles and seminiferous tubules in the same patient with a 46XX karyotype
• increased risk of malignant transformation of gonadal tissue
• mixed gonadal dysgenesis
Investigations
• history: pregnancy (hormones and medications), family history
• physical exam: palpation of gonads, rectal exam (except in newborns)
• investigations
• karyotype
• electrolytes and renin (evidence of salt-wasting in CAH)
• measurement of 17-0H-progesterone (must wait until day 3 of life), androgens, FSH and LH
• abdominal U/S to look for uterus, testicles, ovaries
Clinical Presentation
• depends on the degree and the specific deficiency
• infants with CAH may present with FTT, shock, salt-wasting (adrenal crisis due to lack of
aldosterone), hyperpigmentation (genital, areola), clitoral hypertrophy, fused labia
• hypertension is rare (usually seen in the 11-hydroxylase variant)
• adult onset ( 11- hydroxylase variant) more insidious, may present as hirsutism
• female: ambiguous genitalia to complete virilization, amenorrhea
• male: precocious puberty, with early adrenarche, dehydration
• accelerated linear bone growth in early years, but premature epiphyseal closure due to high
testosterone, resulting in decreased adult height
• possible Addisonian picture (adrenal insufficiency) if adrenal output of cortisol severely
compromised
P32 Pediatrics Endocrinology Toronto Notes 2012
11-Hydroxylase Deficiency
• sexual ambiguity in females
• may have insidious onset; may present with hirsutism, occasionally hypertension
17-Hydroxylase Deficiency
• sexual ambiguity in males, hypertension
Investigations
• low Na+, high K+, low cortisol, high ACTH if both glucocorticoid and mineralocorticoid
deficiency
• increased serum 17-0H-progesterone (substrate for 21-hydroxylase)
• increased testosterone, DHEAS, urinary 17-ketosteroids
• advanced bone age
Treatment
• glucocorticoid replacement to lower ACTH
• in salt-wasting type mineralocorticoids given as well
• spironolactone is used in late-onset 21-hydroxylase deficiency as anti-androgen
• surgery to correct ambiguous genitalia
Precocious Puberty
• secondary sexual development <8 yrs in girls, <9 yrs in boys
• incidence: 1 in 10,000
• more common in females; more worrisome in males (higher incidence of pathology)
• indications for medical intervention to delay progression of puberty are male sex, age <6, bone
age advancing more quickly than height age, and psychological issues
• GnRH agonists such as leuprolide are most effective at delaying central precocious puberty
• medications used in peripheral precocious puberty include ketoconazole (to block steroid
production), 5-a reductase blockers (finasteride), steroid receptor blockers (spironolactone),
aromatase blockers (testolactone, anastrozole)
Investigations
• history: symptoms of puberty, family history of puberty onset, medical illness
• physical exam: growth velocity, Tanner staging, neurological exam
• estradiol, testosterone, LH, FSH, TSH, GnRH test
• bone age (often advanced)
• consider CT or MRI of head, U/S of adrenals, pelvis
Treatment
• GnRH analogs, GnRH agonist (Lupron®) -negative feedback to downregulate GnRH receptors
• medroxyprogesterone - slows breast and genital development
• treat underlying cause
Delayed Puberty
• absence of pubertal development by age 13 in girls (first sign usually breast development) and
age 14 in boys (first sign usually increase in testicular size)
• more common in males, more suggestive of pathology in females
Central Causes
• delay in activation of hypothalamic-pituitary-gonadal axis
• hypogonadotropic hypogonadism
• differential diagnosis
• constitutional (bone age delayed)- most common (>90%)
Peripheral Causes
• hypergonadotropic hypogonadism (e.g. primary gonadal failure)
• differential diagnosis
• genetic (e.g. Turner syndrome, Klinefelter's syndrome)
• gonadal damage - infection, radiation, trauma
• gonadal dysgenesis
• hormonal defect- androgen insensitivity, S-a-reductase deficiency
P34 Pediatrics Endocrinology Toronto Notes 2012
Investigations
o history: weight loss, short stature, family history of puberty onset, medical illness
o physical exam: growth velocity (minimum 4 cm/yr), Tanner staging, neurological exam,
complete physical exam
o hormone levels: estradiol, testosterone, LH, FSH, TSH, GnRH, test bone age
Management
o identify and treat underlying cause
o hormonal replacement: cyclic estradiol and progesterone for females, testosterone for males
Short Stature
I;;•
Short Stature
Short Stature DDx I
ABCDEFG
Alone (neglected infant)
+
IUGR
+
No IUGR
Bone dysplasias (rickets, scoliosis, I
mucopolysaccharidoses)
Chromosomal (Turner, Down)
Delayed growth
Primordial
• Ht, wt, and HC are affected
Proportionate
+
Disproportionate
Endocrine (low growth hormone, • Skeletal dysplasia
• Chromosomal (e.g. Turner, Down)
Cushing, hypothyroid)
• Teratogen, placental insufficiency,
Familial
infection
Gl malabsorption (celiac, Crohn's)
I
+
Normal Growth Velocity
+
Slow Growth Velocity
Constitutional Growth Delay Endocrine (height affected more than weight)
• Delayed puberty • GH deficiency (slow growth velocity,
• May have family history of delayed puberty decreased bone age, delayed puberty)
4 Questions to Ask when Evaluating • May need short-term therapy with androgens/ • Hypothyroidism
Short Stature estrogens • Hypercortisolism (Cushing syndrome)
1. Was there IUGR? • Delayed bone age (exogenous and endogenous)
2. Is the growth proportionate? • Often mid-parental height is normal • Hypopituitarism
3. Is the growth velocity normal? Familial Chronic disease (weight affected more than height)
4. Is bone age delayed? • Normal bone age • Cyanotic congenital heart disease
• Treatment not indicated • Celiac disease, inflammatory bowel disease, CF
• Family Hx of short stature • Chronic infections
• Chronic renal failure (often height more affected)
Psychosocial neglect (psychosocial dwarfism)
• Usually decreased height and weight (decreased
head circumference if severe)
o special growth charts available for Turner syndrome, achondroplasia, DS; growth velocity is
often normal
o children are usually in a percentile between their parents' height
o decreased growth velocity may be more worrisome than actual height
Management
o depends on severity of problem as perceived by parents/child
Etiology
• congenital GH deficiency
• idiopathic
• embryologic CNS malformation: associated midface anomalies, neurologic defects,
micropenis in males and hypoglycemia
• perinatal asphyxia
• rare mutations
• acquired GH deficiency
• tumours (e.g. craniopharyngioma), trauma, cranial infection, irradiation, post-surgical
Clinical Presentation
• infantile features and fat distribution (short and chubby), delayed puberty, hypoglycemia,
high-pitched voice
Investigations
• testing for GH deficiency (stimulation testing) only performed when:
• height <3rd percentile
• decreased growth velocity
• midline craniofacial anomalies
• episodes of hypoglycemia
• delayed bone age, puberty
• physiologic increase in GH with: arginine, clonidine, insulin, dopamine, or propranolol
• positive test if failure to raise GH >8-1 0 ng/mL post-stimulation
Treatment
• GH therapy indicated if:
• GH shown to be deficient by 2 different stimulation tests
• short stature, insufficent growth velocity, <3rd percentile
• bone age x-rays show unfused epiphyses
• Turner syndrome, Noonan syndrome, chronic renal failure
Tall Stature
• constitutional tall stature: advanced height and bone age during childhood but not necessarily
associated with tall adult height (obesity can contribute to this by causing bone age to advance
more rapidly)
Etiology
• constitutional/familial: most common, advanced bone age/physical development in childhood
but normal once adulthood reached
• endocrine: hypophyseal (pituitary) gigantism, precocious puberty, thyrotoxicosis, Beckwith-
Wiedemann syndrome
• genetic: Marfan syndrome, Klinefelter's syndrome, Sotos syndrome, homocystinuria
Investigations
• history and physical examination: differentiate familial from other causes
• calculate mid-parental height (predicted adult height, see sidebar P34)
• look for associated abnormalities (e.g. hyperextensible joints, long fingers in Marfan syndrome)
Treatment
• depends on etiology
• treatment only required in pituitary gigantism
• estrogen used in females to cause epiphyseal fusion (rarely indicated)
P36 Pediatrics Gastroenterology Toronto Notes 2012
Gastroenterology
Vomiting
o investigations (based on history and physical exam)
Vomiting: forceful expulsion of stomach • bloody emesis: investigate for causes of upper gastrointestinal ( GI) bleed
contents through the mouth. • bilious emesis: rule out obstruction (upper GI series, U/S)
Regurgitation: the return of partially • evaluate for gastroesophageal reflux (history, empiric trial of acid suppressive treatment,
digested food from the stomach to the esophageal pH monitoring)
mouth.
• CBC, electrolytes, BUN, creatinine, ESR, venous blood gases, amylase, lipase
• urine, blood, stool C&S
• abdominal x-ray, U/S, contrast radiology, endoscopy
• consider head imaging
o management
• rehydration (see Pediatric Nephrology, P76)
• treat underlying cause
Pyloric Stenosis
o incidence: 1:500, M:F = 4:1, onset common in first-born males, positive FHx
o clinical features
..,. • non-bilious projectile vomiting that occurs after feeding
Pyloric Stenosis 3 P's • usually starts at 2-4 wks of age
Palpable mass • infant hungry and alert, will re-feed
Peristalsis visible
Projectile vomiting (2-4 wks after birth)
• constipation, FTT, wasting
• dehydration, may lead to prolonged jaundice
• reverse peristalsis goes from left upper quadrant (LUQ) to epigastrium
• "olive sign": olive-shaped mass at margin of right rectus abdominus muscle
• hypochloremic metabolic alkalosis
o diagnosis: clinical, abdominal U/S and x-ray
Duodenal Atresia
o incidence: 1:10 000, 50% are born prematurely
o clinical features
• bile-stained vomiting if atresia distal to bile duct
• no abdominal distention
• dehydration
• associated with DS, prematurity
• often have history of maternal polyhydramnios
o abdominal x-ray: air-fluid levels on upright film; "double bubble" sign (dilated stomach and
duodenum)
o differential diagnosis: annular pancreas, aberrant mesenteric vessels, pyloric stenosis
o treatment
• decompression with NG tube, correction of metabolic abnormalities, surgical correction
Toronto Notes 2012 Gastroenterology Pediatrics P37
Anatomic
• GI tract obstruction: intussusception, volvulus, foreign body (e.g. bezoar)
Gastroesophageal Reflux
• extremely common in infancy (up to 50%): thriving baby requires no investigation
• vomiting typically soon after feeding, non-bilious, rarely contains blood, small volume (<1 oz)
• investigations required if: FTT, recurrent cough, pneumonia or bronchospasm, GI blood loss,
symptoms persist after 18 months
• 24-h pH probe, UGI series to rule out anatomical cause, upper endoscopy and esophageal
biopsy for suspected esophagitis
• management
• conservative: thickened feeds, frequent and smaller feeds, elevate bed to 45°
• medical:
• short-term parenteral feeding to enhance weight gain
• ranitidine, omeprazole: to decrease gastric acidity, decrease esophageal irritation
• domperidone: to improve gastric emptying and GI motility
• surgical: indicated for failure of medical therapy (Nissen fundoplication)
• complications: esophagitis, strictures, Barrett's esophagus, FTT, aspiration, oral feeding aversion
Other
• metabolic/endocrine: DKA, inborn errors of metabolism, liver failure
• poisons/drugs: lead, digoxin, erythromycin, theophylline
• psychogenic: rumination syndrome, anorexia/bulimia
• food allergy
• overfeeding
• pregnancy
Acute Diarrhea
Table 16. Causes of Acute Diarrhea
Infectious Non-Infectious
Diarrhea is defined as an increase in
Viral Bacterial Parasitic Antibiotic-induced frequency and/or decreased consistency
Rotavirus Salmonella Giardia Iamblia Non-specific: associated with systemic infection of stools compared to normal.
Norwalk Campylobacter Entamoeba histolytica Hirschsprung's disease Normal stool volume:
Enteric Adenovirus Shigella Toxin ingestion Infants: 5-1 0 g/kg
Pathogenic E. coli Primary disaccharide deficiency Children: 200 g/d
Yersinia
C. difficile
P38 Pediatrics Gastroenterology Toronto Notes 2012
VIRAL INFECTION
o most common cause of gastroenteritis in Canada and worldwide
o rotaviruses are the most common agent, often seen in winter months in temperate climates
o astroviruses are the second most important etiological agent, common in both developing and
developed nations
o Norwalk virus is the third most common agent; typically affects older children and adults
o clinical features
BACTERIAL INFECTION
o clinical features: severe abdominal pain, high fever, bloody diarrhea
o risk factors: travel, poorly cooked meat, poorly refrigerated foods, prolonged antibiotics
Investigations
Indications for Medical Evaluation of o history and physical examination critical to determine degree of dehydration (see Pediatric
Acute Diarrhea Nephrology, P76)
• Age < 6 months o rectal exam for fecal consistency and for microscopy (leukocytes suggestive of invading pathogen)
• Fever
o stool for culture and sensitivity (C&S), ova and parasites (O&P), electron microscopy for
• Visible blood in stool
• Frequent, substantial volume of viruses, C. difficile toxin
diarrhea o if severe: routine blood work, blood and urine cultures
• Signs of dehydration
• Change in mental status
Treatment
MMWR Recomm Rep 2003; 52IRR-16):1-16 o prevention and treatment of dehydration is most important (see Dehydration, P76)
o oral rehydration therapy with frequent small volumes of pediatric rehydration solutions, IV
fluids may be required (see Fluid and Electrolyte Therapy, P76)
o early refeeding advisable, start with small amounts of easily digested carbohydrates, postpone
Chronic Diarrhea
Investigations
o perform serial heights, weights, growth percentiles
• stool: consistency, pH, reducing substances, microscopy, occult blood, O&P, C&S, C. difficile
toxin, 3-day fecal fat, AlAT clearance, fecal elastase
Chronic diarrhea: three or more loose, • urinalysis
watery stools per day, lasting > 14 d.
• CBC, differential, ESR, smear, electrolytes, total protein, albumin
• absorptive and nutritional status: albumin, carotene, Ca2 +, P04 3- , Mg2 +, Fe, ferritin, folate,
fat -soluble vitamins, PTT, INR
• sweat chloride, thyroid function tests, urine vanillyl mandellic acid (VMA) and homovanillic
acid (HVA), HIV test, lead levels, celiac screen
• CXR, upper GI series and follow-through
• specialized tests: endoscopy, small bowel biopsy
Toddler's Diarrhea
o epidemiology
• presents at any age, usually 6-24 months with the introduction of gluten in the diet
• FTT with poor appetite, irritability, apathy Celiac disease diet must avoid gluten
• anorexia, nausea, vomiting, edema, anemia, abdominal pain present in "BROW" foods
• wasted muscles, distended abdomen, flat buttocks, clubbing of fingers Barley
Rye
• rickets Oats (controversial)
• non-GI manifestations: dermatitis herpetiformis, dental enamel hypoplasia, osteopenia/ Wheat
osteoporosis, short stature, delayed puberty
• associated with other auto-immune disorders
o diagnosis
Other Gl Causes
• specific enzyme deficiencies
• liver disease, biliary atresia
•
• short gut toxic or immunologic reaction
• blind loop syndrome
• giardiasis
2. PANCREATIC INSUFFICIENCY
Schwachman-Diamond Syndrome
• incidence: 1:20,000, autosomal recessive
• pancreatic insufficiency, cyclic neutropenia, and anemia
• skeletal abnormalities (metaphyseal dysostosis leading to short stature)
• recurrent pyogenic infections
• distinguished from CF by normal sweat chloride test, characteristic metaphyseal lesions, fatty
pancreas on CT
3. OTHER
• diets rich in sorbitol, fructose (poorly absorbed carbohydrates)
• metabolic/endocrine
• thyrotoxicosis, Addison's disease, galactosemia
• immune defects
• IgA deficiency, hypogammaglobulinemia, severe combined immunodeficiency (SCID), AIDS
• neoplastic
• pheochromocytoma, lymphoma of small bowel, carcinoid tumours, secretory tumours
• food allergy
• laxative abuse
Constipation
Functional Constipation
• 99% of cases of constipation
• lack of fibre in diet or change in diet, poor fluid intake, behavioural
• infants: often when introducing cow's milk after breast milk because increased fat and solute
amounts, lower water content
• toddlers/older children: can occur during toilet training, or due to pain on defecation, stool
withholding
Constipation • complications
Decreased stool frequency
( < 3 stools/wk) and/or stool fluidity.
• pain retention cycle: anal fissures and pain withhold passing stool chronic dilatation
and overflow incontinence
• treatment
• clean out: picosalax, biscodyl, PEGlyte•, PEG 3350 flakes
• maintenance: adequate fluid intake (if <6 months, 150 ml!kg/d), adequate dietary fibre,
As many as 20% of children < 5 yrs of mineral oil, appropriate toilet training technique
age experience constipation. • months of maintenance treatment is often required
Assessment
• description of pain (location, radiation, duration, constant vs. colicky, relation to meals)
• associated symptoms: nausea, vomiting, diarrhea, fever
• physical examination: peritoneal signs, bowel sounds, rectal exam
• labs: CBC, differential, urinalysis to rule out urinary tract infection (UTI)
Appendicitis
• see General Surgery. GS28
• most common cause of acute abdomen after 5 yrs of age
• clinical features
• low grade fever, anorexia
• nausea, vomiting (after onset of pain)
• abdominal pain, peritoneal signs
• generalized peritonitis is a common presentation in infants/young children
• treatment: surgical
• complications: perforation, abscess
Intussusception
• 90% idiopathic, children with CF or GJ tube at significantly increased risk
50% between 3-12 months, 75% before 2 yrs of age
• telescoping of segment of bowel into distal segment ischemia and necrosis Intussusception- Classic Triad
• usual site: ileocecal junction; jejunum in children with GJ tubes Abdominal pain
Palpable mass
• lead point of telescoping segment may be swollen Peyer's patches, Meckel's diverticulum, polyp, Red currant jelly stools
malignancy, Henoch-Schonlein Purpura
• clinical features
• "classic triad"
• abdominal pain
• palpable sausage-shaped mass: upper to mid-abdomen
• "red currant jelly" stools (only in 10-15% of patients)
• sudden onset of recurrent, paroxysmal, severe periumbilical pain with pain-free intervals
• later vomiting and rectal bleeding
• shock and dehydration
• diagnosis and treatment
• U/S
• air enema diagnostic, can be therapeutic (reduce intussusception in 75% of cases)
• reduction under hydrostatic pressure
• surgery rarely needed
P42 Pediatrics Gastroenterology Toronto Notes 2012
• Prominent vomiting, diarrhea • vague, crampy periumbilical or epigastric pain, vivid imagery to describe pain, clustering of
• Weight loss or failure to gain weight episodes
• Joint pain
• seldom awakens child from sleep
• aggravated by exercise, alleviated by rest
o psychological factors related to onset and/or maintenance of pain, school avoidance
o psychiatric comorbidity: anxiety, somatoform, mood, learning disorders, sexual abuse, eating
o investigations as indicated
Abdominal Mass
Table 19. Differential Diagnosis for Abdominal Mass
Benign Malignant
Renal Hydronephrosis Nephroblastoma (WilmsI
Polycystic kidney disease WCKDI Renal cell carcinoma (RCCI
Hamartoma
Adrenal Neuroblastoma
Ovarian Ovarian cysts Ovarian tumours
Other Splenomegaly Lymphoma
Pyloric stenosis Rhabdomyosarcoma
Abdominal hernia Retroperitoneal sarcoma
Teratoma
Fecal impaction
ETIOLOGY
Acute
• infectious (bacterial, parasitic)
• antibiotic-induced (C. difficile)
• necrotizing entercolitis in preterm infants
• anatomic
• malrotation/volvulus, intussusception
• Meckel's diverticulitis
• anal fissures, hemorroids
• vascular/hematologic
• Henoch-Schiinlein Purpura (HSP)
• hemolytic uremic syndrome (HUS)
• coagulopathy
Chronic
• anal fissures (most common)
• colitis
• inflammatory bowel disease (IBD)
• allergic (milk protein)
• structural
• polyps (most are hamartomas)
• neoplasms (rare)
• coagulopathy
Assessment
• hemodynamic status, evidence of FTT, fever
• anal and rectal exam
• tags, fissures, anal fistulas, polyps
• foreign body
• blood
• stool appearance
• NG aspirate
• lower GI bleed may present as melena (if it involves the small bowel) or hematochezia
• stool cultures (C. difficile)
• urinalysis and microscopy
• CBC, smear, differential, platelets, ESR, electrolytes, urea, creatinine, INR, PTT, albumin, iron
studies, amoeba titers
• radiologic investigations
• abdominal x-ray (AXR) to rule out obstruction
Treatment
• acute stabilization: ABCs, volume and blood replacement, bowel rest (NPO, NG tube)
• once stable, endoscopy and surgery as indicated
History
• prenatal!obstetrical history (see 0 bstetrics)
• complete 3 generation family pedigree: consanguinity, stillbirths, neonatal deaths, specific
illnesses, intellectual disability, multiple miscarriages, ethnicity
Physical Examination
Facial gestalt
Investigations
• ask for serial photographs if child is older or family pictures
• x-rays if bony abnormalities or if suspect a congenital infection
• cytogenetic/chromosome studies± skin fibroblasts
• biochemistry: specific enzyme assays
• genetic probes, e.g. Fragile X, microdeletion 22
• prenatal counselling and assessing risk of recurrence
• skin fibroblasts if mosaicism suspected
Genetic Syndromes
Table 20. Common Genetic Syndromes
Trisomy 21 Trisomy 18 Trisomy 13
Disease Down syndrome Edwards syndrome Patau syndrome
Incidence 1:600-800 births 1:6000 live births 1:1 0 DOD live births
Most common abnormality of autosomal chromosomes Female:male = 3:1
Rises with advanced maternal age from 1:2000 at age 20
to 1:20 by age 45
Cranium/brain Mild microcephaly, flat occiput, 3rd fontanelle, Microcephaly, prominent occiput Microcephaly, sloping forehead, occipital
brachycephaly scalp defect, holoprosencephaly
Eyes Upslanting palpebral fissures, inner epicanthal folds, Microopthalmia, hypotelorism, iris coloboma, retinal Microopthalmia, corneal abnonnalities
speckled iris (Brushfield spots), refractive errors (myopia), anomalies
acquired cataracts, nystagmus, strabismus
Ears Low-set, small, overfolded upper helix, frequent AOM, Low-set, malformed Low-set, malfonned
hearing loss
Toronto Notes 2012 Genetics, Dysmorphisms and Metabolism Pediatrics P45
IQ and Behaviour Mild to moderate intellectual Mild intellectual disability Mildly deficient to normal intelligence Moderate intellectual disability in
disability, 20%of affected males Behavioural or psychiatric 25%of patients
have normaiiQ disorders - anxiety, shyness,
ADHD and/or autism aggressive behaviour, antisocial
Female carriers may show acts
intellectual impairment
Gonad and Reproductive Infertility due to hypogonadism/ Streak ovaries with deficient follicles, Delayed puberty
Function hypospermia infertility, primary amenorrhea, impaired
development of secondary sexual
characteristics
Diagnosis/Prognosis/ Diagnosis: Management: Normal life expectancy if no Management
Management Cytogenetic studies: region on Xq Testosterone in adolescence complications Affected males may require
which fails to condense during Increased risk of X-linked diseases testosterone replacement therapy
mitosis, fragile X marker Management: at puberty
Molecular testing: overamplification Echo, EGG to screen for cardiac Echo, EGG
of the trinucleotide repeat, length of malformation
segment is proportional to severity GH therapy for short stature
of clinical phenotype (genetic Estrogen replacement at time of puberty
anticipation) for development of secondary sexual
characteristics
P46 Pediatrics Genetics, Dysmorphisms and Metabolism Toronto Notes 2012
o symptoms similar to Duchenne but onset is later in childhood and progression is slower
Associations
• associations are a non-random occurrence of multiple malformations with unknown etiology,
while syndromes are a pattern of anomalies that have a known etiology
• VACTERL should be suspected when a child is found to have tracheo-esophageal fistula:
V Vertebral dysgenesis (70%)
A Anal atresia (imperforate anus)± fistula (80%)
C Cardiac anomalies, such as VSD (53%)
T-E TracheoEsophageal fistula± esophageal atresia (70%)
R Renal anomalies (53%)
L Limb anomalies, i.e. radial dysplasia, pre-axial polydactyly, syndactyly (65%)
• may also present with a single umbilical artery or FTT
• prognosis: may have normal health and mental development with aggressive treatment of
abnormalities
Metabolic Disease
• an inherited disorder of intermediary metabolism; often autosomal recessive
• infants and older children may present with failure to thrive (FTT) or developmental delay
• In Ontario, universal newborn screening looks for: 9 organic acid disorders, 6 amino
acid disorders, 5 fatty acid oxidation defects, 3 hemoglobinopathies, 2 endocrinopathies,
galactosemia, biotinidase deficiency, cystic fibrosis, and hearing loss
• types of disorders
• proteins: PKU, tyrosinemia, organic acid disorders, urea cycle defects
• carbohydrates: galactosemia, glycogen storage diseases
• fats: fatty acid oxidation defects
• organelle disorders: congenital disorders of glycosylation, mucopolysaccharidosis
Clinical Manifestations
• vomiting and acidosis after feeding initiation (amino acid or carbohydrate metabolic disorder)
• hepatosplenomegaly (metabolites accumulate in the liver) Metabolic disease must be ruled out in
• neurologic syndrome: acute and chronic encephalopathy, intellectual disability, megalencephaly any newborn who becomes acutely ill
(mucopolysaccharide disorders) after a period of normal behaviour and
• severe acidosis (aminoaciduria), hyperammonemia (urea cycle and organic acid disorders) development or with a family history of
early infant death even if the newborn
• growth retardation, seizures, coma, hypoglycemia screen is negative.
• autonomic manifestations (e.g. pallor, sweating, tremor)
Physical Exam
• odour: burnt sugar, sweaty feet, musty, ammonia-like
• skin: hypo/hyperpigmentation, rash, xanthomas
• hair: alopecia, hirsutism, abnormal architecture, fair colouring
• eyes: cornea (clouding, crystals), lens (cataracts, dislocation), retina (macular cherry red spot,
pigment retinopathy, optic atrophy)
Initial Investigations
• electrolytes, ABGs (calculate anion gap, rule out acidosis)
• CBC with differential and smear
• blood glucose (hypoglycemia seen with organic acidemia, fatty acid oxidation defects and
glycogen storage diseases)
• lactate, ammonium (hyperammonemia with urea cycle defects), plasma Ca2+ and Mg2+
• routine urinalysis: ketonuria must be investigated
• others: urate, urine nitroprusside, amino acid screen, CSF glycine, free fatty acids
ratio >4 in fatty acid oxidation defect)
• storage diseases: urine mucopolysaccharide and oligosaccharide screen
Phenylketonuria (PKU)
• incidence: 1 in 10 000
• screened in all newborns
• etiology: deficiency of phenylalanine hydroxylase prevents conversion of phenylalanine to
tyrosine leading to build up of toxic metabolites
• mothers who have PKU may have infants with congenital abnormalities
• presentation
• baby is normal at birth, then develops a musty odour, eczema, hypertonia, tremors, and
mental retardation
• hypopigmentation due to low tyrosine (fair hair, blue eyes)
• treatment
• PKU screening at birth
• dietary restriction of phenylalanine starting within the first 10 d of life
• duration of dietary restriction controversial - lifelong or until end of puberty; should be
resumed during pregnancy to maintain normal phenylalanine levels
P48 Pediatrics Genetics, Dysmorphisms, and Metabolism/Hematology Toronto Notes 2012
Galactosemia
• incidence: 1 in 60 000, autosomal recessive disease
• most commonly due to deficiency of galactose-1-phosphate uridyltransferase leading to an
inability to process lactose/ galactose
• increased risk of sepsis, especially E. coli
• if the diagnosis is not made at birth, liver and brain damage may become irreversible
• features: neonate who ingests lactose/galactose exhibits signs of liver and renal failure, jaundice,
FTT and cataracts
• treatment
• elimination of galactose from the diet (e.g. dairy, breast milk)
• most infants are fed a soy-based diet
Hematology
Physiologic Anemia
• high hemoglobin (> 170 g/L) and reticulocyte count at birth is a result of a relatively hypoxic
Normal Hg Values by Age
Age Hg Range (g/L)
environment in utero
Newborn 137-201 • after birth, levels start to fall due to shorter fetal RBC lifespan, decreased RBC production
2 wks 130-200 (during first 6-8 wks of life, there is virtually no erythropoiesis due to new 0 2 rich
3 months 95-1 45 environment), and increasing blood volume secondary to growth
6 months-6 yrs 105-1 40
• lowest levels about 100 g/L at 8-12 wks age (earlier and more exaggerated in premature infants);
7-12yrs 110-160
Adult female 120-1 60 levels rise spontaneously with activation of erythropoiesis
Adult male 140-1 80 • no treatment usually required
Etiology
• dietary risk factors
• age >6 months: <2 servings/d of iron-fortified cereal, red meat, or legumes
Iron deficiency is rare in childen
• age <12 months: use oflow-iron formula (<10 mg/L), cow or goat's milk, or soy milk to fulfill
< 6 months in the absence of blood loss
or prematurity. milk-based part of diet
• age 1-5 yrs: >20 oz/ d of non-fortified milk
• blood loss
• iatrogenic: repeated blood sampling (especially in hospitalized neonates)
• allergic: cow's milk protein-induced colitis
Investigations
• CBC: low Hgb, MCV and MCH, reticulocyte count normal or high (absolute number low),
normal WBC
• Mentzer index (MCV/RBC) can help distinguish iron deficiency anemia from thalassemia
• ratio < 13 suggests thalassemia; ratio > 13 suggests iron deficiency
Ferritin is an acute phase reactant,
therefore, normal or high ferritin does
• blood smear: hypochromic, microcytic RBCs, pencil shaped cells, poikylocytosis
not exclude iron deficiency anemia • iron studies: low ferritin, low iron, high TIBC
during an infection. • initial therapy: trial of iron
Prevention
• breastfed term infants: begin iron supplementation (1 mg/kg/d) at 4-6 months, continuing until
able to feeds/ d of iron-rich foods
• non-breastfed (<50% of diet) term infants: give iron-fortified formula from birth
• premature infants: give iron supplements from 1 month through to 1 year of age
• no cow's milk until9-12 months
• early introduction of red meat and iron-rich vegetables: total daily iron should be 11 mg (age
6-12 months), 7 mg (age 1-3 yrs)
• universal screening of Hgb levels recommended by AAP at 9-12 months; additional testing if at
risk
Toronto Notes 2012 Hematology Pediatrics P49
Management
o encourage diverse, balanced diet, limit homogenized milk to 16-20 oz/d
o oral iron therapy- 3-6 mg/kg/d elemental iron, divided BID to TID, for 3 months to replete iron
stores
• increased reticulocyte count in 2-3 d (peaks day 5-7)
• increased hemoglobin in 4-30 d
• repletion of iron stores in 1-3 months
• repeat hemoglobin levels after 1 month of treatment
o poor response to oral iron therapy: non-compliance, medication intolerance, ongoing blood
loss, IBD, celiac disease, incorrect diagnosis
Hemoglobinopathies
SICKLE CELL DISEASE (SCD)
o see Hematology, H19
o identification of specific genotypes important due to differences in frequency, type and severity
of clinical complications (most severe: SS, less severe: SC, thalassemia, rare: SD)
Pathophysiology
o caused by a genetic defect in genes
• HgS: single amino acid replacement (glutamic valine)
o RBCs sickle under conditions of stress (low p0 2, dehydration, fever, acidosis)
o acute intravascular sickling results in infarction of tissue (capillary occlusion and thrombosis of
spleen, lungs, bones, brain, digits) 8% of African Americans carry the HbS
trait, 0.2% have the disease.
o hemolysis causes chronic, well-compensated, normochromic normocytic anemia
Heterozygotes (trait) are relatively
(Hgb 60-90 g/L) malaria-resistant.
o increased incidence in people of African and Mediterranean heritage
Presentation
o newborns from high-risk families undergo screening; may be part of provincial newborn
screening program
o clinical disease presents at 5-6 months of age after fall in fetal Hb
o anemia, fever (medical emergency- infection is leading cause of death in SCD), jaundice,
splenomegaly, crisis (dactylitis is often the first presentation)
o sickle cell trait: asymptomatic (may have microscopic hematuria)
Types of Crises
o vaso-occlusive crisis
Functional Asplenia
o splenic dysfunction usually by 5 yrs of age secondary to auto-infarction
o all individuals with SCD should be on prophylactic antibiotics, and be vaccinated against
Other Manifestations
o long term complications: growth delay, bony abnormalities - e.g. avascular necrosis
(AVN) offemoral head, gallstones, retinopathy, restrictive lung disease (screen with PFTs),
cardiomyopathy (screen with echo)
Management
o acute crises
HEREDITARY SPHEROCYTOSIS
o defect in spectrum gene
o red cell membrane protein abnormality; causes sphering of RBCs which are removed by the
spleen
o genetics
• autosomal dominant (positive family history in 75%)
• high spontaneous mutation rate (no family history in 25%)
o wide range of clinical severity from well-compensated, mild hemolytic anemia to severe
hemolytic anemia with growth failure, splenomegaly, gallstones, neonatal jaundice, and chronic
transfusion requirements in infancy
o diagnosis: spherocytes (circular RBCs) on blood smear, osmotic fragility test
o management
o prevention: avoid known oxidants e.g. fava beans, antimalarials (primiquine), sulfonamides
Bleeding Disorders
o see Hematology, H29
Coagulation Defects
o characterized by bleeding into joints (hemarthroses) and muscles
Platelet Abnormalities
o characterized by petechiae, purpura, bruises, mucocutaneous bleeding (e.g. epistaxis, gingival
Hemophilia B N N 1' N N N N
Extensive bruising in the absence of lab
von Willebrand's 1' N Nor 1' ._(, ._(, N N abnormalities: consider child abuse .
DIC Nor 1' 1' 1' ._(, N {- ._(,
Thrombocytopenia 1' N N N N {- N
BT = Bleeding Time, VIII:C = Factor VIII Coagulant Activity, vWF = von Willebrand'sfactor, OIC = Disseminated Intravascular Coagulation
P52 Pediatrics Infectious Diseases Toronto Notes 2012
Infectious Diseases
Table 25. Antibiotic Treatment of Pediatric Bacterial Infections
Rochester Criteria - developed to Infection Pathogens Treabnent
identify infants ,;;60 d of age with
fever at low risk of serious bacterial Meningitis/Sepsis
infection
Neonatal GBS, E. coli, Listeria Ampicillin + aminoglycoside (gentamicin or tobramycin)
Clinically Well (birth up to 6 wks) Other: Gram-negative bacilli (sepsis)
WBC count 5-15 X 109/L Ampicillin + cefotaxime ± vancomycin (meningitis)
9
Bands < 1.5 X 10 /L
6 wks-3 months Same pathogens as above and below Ampicillin + cefotaxime ± cloxacillin if risk of S. aureus (sepsis)
Urinalysis 10WBCIHPF Ampicillin + cefotaxime ± vancomycin (meningitis)
Stool Iif diarrhea) 5 WBC/HPF
> 3 months S. pneumococcus, N. meningitidis, Cefotaxime + vancomycin (sepsis)
Past Health Born > 37 wk H. influenzae type b (> 5 yrsI Ceftriaxone + vancomycin (meningitis)
Home with/before mom
No hospitalizations Otitis Media S. pneumoniae, H. influenzae, 1'1 line: amoxicillin
No prior antibiotic use M. catarrhalis, S. pyogenes 2nd line: high dose amoxicillin or Clavulin®
No prior treatment 3'd line: high dose Clavulin® or cefuroxime or ceftriaxone
for unexplained Group A Streptococcus Penicillin/amoxicillin or erythromycin (penicillin allergy)
Strep Pharyngitis
hyperbilirubinemia
No chronic disease UTI E. coli, Klebsiella, Proteus, Pseudomonas, Uncomplicated: oral cephalexin, cefixime
S. saprophyticus, Enterococcus, GBS Complicated (neonate, immunocompromised, vomiting): IV
ampicillin + gentamycin, or 3rd/41h generation cephalosporin
(cefotaxime, ceftriaxone, cefepime)
•t •
I
• •
I I
•
empiric antibiotics Reliable F/U2 and I
+
1
Low risk' criteria
Admit, full SWU', T > 39•c T < 39•c
empiric antibiotics
SWU+ Abx Admit, full SWU', Urine R&M Urine R&M
May consider empiric antibiotics CBC Observation
•
treating I
as outpatient'
WBC > 15
+
WBC < 15
Etiology
• bacterial (70%)- S. pneumoniae (25-40%), non-typable H. injluenzae (10-30%), M. catarrhalis
(5-15%), Group A Streptococcus (3%), S. aureus
• viral (20%)- commonly RSV, influenza, parainfluenza, adenovirus
Definitions
• certain diagnosis: 1) recent, usually abrupt, onset of signs and symptoms of middle
ear inflammation and effusion 2) presence of middle ear effusion (MEE) 3) middle ear
inflammation (MEl)
• uncertain diagnosis: does not meet all three criteria
• severe illness: moderate to severe otalgia or fever >39°C A Review of Antibiotics for AOM in Children
• non-severe illness: mild otalgia and fever <39°C Comparing any Antibiotic Against Observation
Indicates that Antibiotic Use has No Significant
Impact on Pain at 24 h and No Significant Effect
History on Hearing
• otalgia, tugging at ears, otorrhea, decreased hearing Cochrane 2004
• irritability, fever, URI symptoms In older children > 6yrs, it is appropriate to
• nausea, vomiting, diarrhea consider a "wart and see prescription", with
• risk factors: bottle feeding, passive smoking, daycare, low SES, cleft lip, Down syndrome, previous/ instructions for re-evaluation if thechild has not
improved significantly wrthin 72 h.
recurrent AOM, family history of recurrent OM, prematurity, male gender, siblings in household In children <2yrs wrth bilateral AOM or AOMwith
• risk of drug resistance: previous antibiotic therapy in past month, history of AOM, daycare otorrhea, antibiotics are recommended by arecent
attendance, age 18-24 months, recent hospitalization meta-analysis. IRovers MM, Glasziou P. Appelman
• recurrent AOM - 3 episodes in 6 months or 4 episodes in 1 yr Cl, et al, Antibiotics for acute otrtis media: ameta-
analysis with individual patient data. Lancet 2006;
368:1429-1435.1
Physical Examination
• febrile
• MEE indicated by any of the following on otoscopy: loss of landmarks, bulging tympanic
membrane (TM), opaque erythematous TM, yellow fluid behind TM, decreased TM mobility, The Concept and Practice of aWait-and-See
air-fluid levels behind the TM, otorrhea (ifTM perforated) Approach to Acute Otitis Media
• MEl indicated by either: distinct erythema of the TM or distinct otalgia (discomfort clearly Cunent Opinion in Pediatrics 2008; 20:72-78
referable to the ear( s) that results in interference with normal activity or sleep) Purpose: To recent AOM trials
comparing antibiotics versus a "wait and see
prescription".
Management Study Characteristics: Guidelines formulated
• 80% of AOM in children self-resolve without antibiotic therapy, therefore controversy exists based on evidence from three recent clinical trials.
surrounding antibiotic use in AOM management Recommendations:
• antibiotics: amoxicillin 80-90 mg/kg/d divided tid Treat immediately wrth antibiotics when:
• Age < 6months
• treatment failure 48-72 h after initial antibiotic use in severe AOM: ceftriaxone, cefuroxime, or • Ill appearance Ishock, unresponsiveI
amoxicillin 80-90 mg/kg/d + clavulin 6.4 mg/kg/d • Recurrent AOM
• analgesics: acetaminophen or ibuprofen for pain management • Suspicion of another concurrent bacterial illness
• see Otolaryngology, OT38 !e.g. pneumonia!
• Recent treatment with antibiotics lin last 7d)
• Pertorated TM !including tympanostomy tubes)
Table 26. Treatment of AOM
• lmmunocompromised
Age Certain Diagnosis Uncertain Diagnosis • Craniofacial abnormalities
• Poor access to medical care
<6 months Antibacterial therapy x 1Od Antibacterial therapy x 1Od
6 months to 2 yrs Antibacterial therapy x 1Od Severe illness: antibacterial therapy x 1Od
Non-severe illness: observation option
Antibacterial therapy if severe illness x 5d; Observation option
observation option if nonsevere illness
Risk Factors
• immunocompromised (e.g. HIV, asplenia, prematurity)
• neuroanatomical defects (e.g. dermal sinus, neurosurgery)
• parameningeal infection (e.g. sinusitis, mastoiditis, orbital cellulitis)
• environmental (e.g. daycare centres, household contact)
Etiology
• 0-3 months: Group B Strep., E. coli, L. monocytogenes, other Gram-negatives, viral (HSV,
enteroviruses)
• 3 months-3 yrs: S. pneumoniae, N. meningitidis, H. injluenzae, TB, viral (enteroviruses, herpes
virus 6, HSV)
• 3-18 yrs: S. pneumoniae, N. meningitidis, H. injluenzae, viral (enteroviruses, adenoviruses,
herpes viruses)
P54 Pediatrics Infectious Diseases Toronto Notes 2012
Pathophysiology
o URTI compromise in integrity of mucosa blood stream invasion from respiratory tract
hematogenous seeding of meninges meningeal and CNS inflammation
Clinical Presentation
o toxic
o ± URTI prodrome
o younger infants: may not demonstrate localizing signs, may have non-specific symptoms (poor
Signs of Meningismus
feeding, irritability, lethargy), bulging fontanelle, increasing head circumference
o signs of meningismus
BONK on the head
Brudzinski's sign • Brudzinski's sign: reflex flexion of hips and knees upon active flexion of the neck
Opisthotonos • Kernig's sign: reflex contraction and pain in hamstrings upon extension ofleg that is flexed
Nuchal rigidity at the hip
Kernig's sign • opisthotonos: spasm in which head and heels are bent backward and body bowed forward
• nuchal rigidity
o signs of increased ICP: headache, diplopia, ptosis, CN VI palsy, bradycardia with hypertension,
Diagnosis
o lumbar puncture (LP) for cerebrospinal fluid (CSF)
• raised opening pressure (normal: if recumbent and relaxed, less flexed position <160 mm
H 2 0; if flexed lateral decubitus position= 100-280 mm H 2 0)
• cloudy in bacterial infection
o CSF examination: WBC, protein, glucose, Gram stain, C&S, latex agglutination tests (if partially
treated bacterial meningitis), Ziehl-Neilson stain (ifTB suspected)
o viral versus bacterial meningitis
o bloodwork: CBC, blood cultures (positive in >80% of non-pretreated cases), serum glucose and
electrolytes, BUN, Cr
Complications
o mortality: neonate 15-20%, children 4-8%; pneumococcus> meningococcus > HiB
• hearing loss
• intellectual disability, learning disorders
• neurological deficit, seizure disorder
• hydrocephalus
Treatment
o isolation with appropriate infection control procedures until 24 hr after culture-sensitive
antibiotic therapy
o bacterial: empiric antibiotics ± dexamethasone (obtain blood culture then treat ASAP if LP
contraindicated or delayed)
o viral: supportive, acyclovir for HSV meningitis
• prophylaxis
• H. influenzae type b vaccine - routine
• meningococcal vaccine - if patient has asplenia or complement deficiency, for outbreaks,
routine in some provinces
• pneumococcal vaccine - if immunocompromised or asplenic, routine in some provinces
• BCG vaccine- if born in TB-endemic area
• antibiotic prophylaxis for contacts and index case
• H. influenzae - rifampin
• N. meningitidis - rifampin, ceftriaxone or ciprofloxacin
• report to public health: acute meningitis (bacterial, viral, other)
Complications
• long term morbidity: focal renal scarring develops in 8% of patients; long term significance
unknown.
Clinical Features
• exudative tonsillitis: GAS, adenovirus, EBV, diphtheria
• soft palate petechiae: GAS, EBV
P56 Pediatrics Infectious Diseases Toronto Notes 2012
Clinical Features
Mcisaac Criteria • Group A Streptococcus (GAS) infection
Hot LACE • most commonly school aged, uncommon in children <3 yrs
Fever >38° C • Mcisaac Criteria: no cough, tender anterior cervical lymphadenopathy, erythematous tonsils
Lymphadenopathy: anterior, tender, with exudate, fever >38•C, age 3-14 (1 point assigned for each feature)
cervical
• score 0-1: no culture, no antibiotics; 2-3: culture, treatifpositive; 4: antibiotics
Age 3-14 yrs
No Cough
Erythematous, exudative tonsils Management
Mcisaac WI, White 0, Tannenbaum 0, low DE. • >2 yrs old, culture before treatment or do rapid Strep antigen test
CMAI1998; 158[1):75-83. • rapid strep test only 70-90% sensitive, therefore culture if negative (throat swab for culture is
gold standard, sensitivity 90-95%)
• picks up 20% of carriers of GAS
• symptomatic
• if 1 symptom, no culture or antibiotics
• if> 1 symptom, culture then treat with antibiotics
• penicillin V or amoxicillin 40 mg/kg/d PO divided bid x 10 d
• erythromycin 40 mg/kg/d PO divided tid x 10 d if allergic to penicillin
• acetaminophen for discomfort
• can prevent rheumatic fever if treated within 9-10 d
• antibiotics do not alter the risk of post-streptococcal glomerulonephritis
• tonsillectomy for proven, recurrent streptococcal tonsillitis
• complications
• if untreated, can lead to
• suppurative complications: otitis media, sinusitis, cervical adenitis, pneumonia, mastoiditis
• direct extension: retropharyngeal/peritonsillar abscess
• scarlet fever, rheumatic fever
• hematogenous spread: bone/joint infection, meningitis, SBE
• acute glomerulonephritis (irrespective of antibiotic treatment)
• invasive GAS disease: illness associated with isolation of GAS from normally sterile sites
(blood, CSF, or pleural fluid)
• treatment of invasive GAS disease
• admit
&;;• • IV clindamycin 40 mg/kg divided into 3-4 doses/d +IV penicillin 250,000-400,000 U/kg/d
Scarlet Fever divided into 6 doses/d
4Sand4P • other illnesses caused by Strep: impetigo, cellulitis, bacteremia, vaginitis, toxic shock syndrome
Sore throat • streptococcal toxic shock: illness associated with isolation of GAS from normally sterile sites
Swollen tonsils (blood, CSF, or pleural fluid) + hypotension, renal impairment, coagulopathy, liver impairment,
Strawberry tongue RDS, rash, soft tissue necrosis (necrotizing fasciitis, myositis, or gangrene)
Sandpaper rash
Perioral Sparing
Non-Pruritic
Non-Painful SCARLET FEVER
Peeling • erythrogenic strain of Group A Streptococcus
• acute onset of fever, sore throat, strawberry tongue
• 24-48 h after pharyngitis, rash begins in the groin, axillae, neck, antecubital fossa
• within 24 h, "sandpaper" rash becomes generalized with perioral sparing, non-pruritic, non-
Scarlet Fever painful
Appearance: erythematous, sandpaper • rash fades after 3-4 d, may be followed by peeling
rash with strawberry tongue; blanches. • treatment: penicillin, amoxicillin, or erythromycin (if penicillin allergic) x 10 d
Timing: 24-48 h after start of symptoms.
Distribution: starts in skin folds [i.e.
neck, axillae, groin); spreads to trunk
with sparing of palms, soles, and
perioral area.
Toronto Notes 2012 Infectious Diseases Pediatrics P57
RHEUMATIC FEVER
o inflammatory disease due to antibody cross-reactivity following GAS infection
Infectious Mononucleosis
o the "great imitator": systemic viral infection that affects many organ systems
o Epstein-Barr virus (EBV): a member ofherpesviridae
o incubation: 1-2 months
o spread through saliva ("kissing disease"), sexual activity
Clinical Features
o prodrome: 2-3 d of malaise, anorexia
o infants and young children: often asymptomatic or mild disease
o older children and young adults: may develop typical infectious mononucleosis syndrome
• fever, tonsillar exudate, generalized lymphadenopathy, pharyngitis
• ± hepatosplenomegaly
• ±rash (rash more frequent with patients treated with amoxicillin/ampicillin)
• any "-itis" (including arthritis, hepatitis, nephritis, myocarditis)
• chronic fatigue
o resolves over 2-3 wks although fatigue may persist for several months
o administration of amoxicillin results in rash in >90% of cases
Complications
o aseptic meningitis, encephalitis, Guillain-Barre, splenic rupture, agranulocytosis,
myocarditis (rare)
Diagnosis
o heterophil antibody test (Monospot®test) is 85% sensitive in adults and older children, but only
50% sensitive if <4 yrs of age
o false positive results with HIV, SLE, lymphoma, rubella, parvovirus
o EBV titres
o CBC and differential: atypical lymphocytes, lymphocytosis, Downey cells, ± anemia,
± thrombocytopenia
Treatment
o throat culture to rule out streptococcal pharyngitis
o supportive care (bed rest, fluids, saline gargles for sore throat, acetaminophen)
o if airway obstructed secondary to node and/or tonsillar enlargement, admit to hospital for steroids
o splenic enlargement often not apparent clinically so all patients should avoid contact sports for
6-8 wks
o acyclovir not useful
P58 Pediatrics Infectious Diseases Toronto Notes 2012
Pertussis
• Bordetella pertussis, whooping cough, "100-day cough''
• incubation: 6-20 d; infectivity: 1 wk before paroxysms to 3 wks after
• increase in number of reported cases since early 1990's
• spread: highly contagious via air droplets released during intense coughing
• greatest incidence among children < 1 yr and adolescents
Clinical Presentation
• prodromal catarrhal stage
• 1-2 wks, most contagious
• coryza, mild cough
• paroxysmal stage
• 2-4wks
• paroxysms of cough, sometimes followed by inspiratory whoop (whoop may be absent in
children <6 months or adults)
• infants may present with apnea
• ± vomiting with coughing spells
• onset of attacks precipitated by yawning, sneezing, eating, physical exertion
• can have severe symptoms for 6 wks, cough for 6 months
• pressure effect - subconjunctival hemorrhage, rectal prolapse, hernias, epistaxis
• convalescent stage
• 1-2 wks, noninfectious
• occasional paroxysms of cough, but decreased frequency and severity, lasts up to 6 months
Diagnosis
• clinical: URTI symptoms followed by paroxysms of cough in an afebrile child
• lymphocytosis
• PCR of nasopharyngeal swab or aspirate
Complications
• otitis media
• respiratory complications
• sinusitis, secondary pneumonia, atelectasis, pneumomediastinum, pneumothorax,
interstitial or subcutaneous emphysema secondary to ruptured alveoli
• neurological complications
• seizures, encephalopathy (1:100,000), intracranial hemorrhage
Treatment
• supportive care
• hospitalize if paroxysms of cough are associated with cyanosis and/or apnea and give 0 2
• antimicrobial therapy indicated if B. pertussis isolated, or symptoms present for <21 d
• azithromycin 10 mg/kg/d x 5 d, erythromycin 40-50 mg/kg/d x 14 d or clarithromycin
15 mg/kg/d x 7 d
• isolate until 5 d of treatment
• treatment will decrease infectivity and symptom severity but not change course of illness
• antibiotic prophylaxis: macrolides for all household contacts
• prevention: acellular pertussis vaccine (Pentacel"') in infants and children, and pertussis booster
(Adacel'") in adolescents and adults
Varicella (Chickenpox)
• varicella-zoster virus (VZV)
• incubation: 10-21 d, infectivity: 1-2 d pre-rash until vesicles have crusted over
• transmission rate is 86% in household contacts; spreads via respiratory secretions (airborne) and
vesicular fluid
• primary infection with virus usually results in life-long immunity: >95% of young adults with
varicella are immune
• maternal infection in first or early second trimester (<2% risk) can cause congenital varicella
syndrome (low birth weight, CNS abnormalities, digit/limb abnormalities, cutaneous scarring,
eye defects)
• maternal infection 5 d before to 2 d after delivery can lead to severe varicella of neonate
Clinical Presentation
• 1-3 d prodrome: fever and respiratory symptoms
Varicella
Appearance: macules --> papules -->
• characteristic polymorphous rash
vesicles --> crusting; all stages apparent • very pruritic
at once. • crops of red macules, which quickly become vesicles surrounded by erythema
Timing: 10-21 d incubation; rash • "dewdrop on erythematous base"
1-3 d after start of symptoms. • vesicles burst and lesions crust over
Distribution: face, trunk, extremities, • on trunk, face, scalp, conjunctivae, vagina, oral mucosa, palms and soles
mucosa, palms and soles.
• new crops usually stop forming after 5-7 d
Toronto Notes 2012 Infectious Diseases Pediatrics P59
Complications
o secondary bacterial infection (most common)
Treatment
supportive (hydration, acetaminophen, anti-pruritics, AVOID salicylates)
o proper hygiene, discourage scratching Absolute Contraindication
o acyclovir for severe disease, immunocompromised patients, neonates Do not use ASA in children due to the
risk of Reye syndrome with varicella and
o avoid contact with others until lesions are dry and crusted and no new ones are appearing
influenza.
Roseola
o human herpes virus 6
o incubation: 5-15 d; infectivity and spread: unknown
o typically affects children <3 yrs
Roseola
Appearance: pink maculopapular rash
Clinical Presentation (faint).
o high fever (>39.5°C) lasting 3-5 d, cough, respiratory symptoms, nasal congestion Timing: 5·15 d incubation; rash 3-5 d
o pharynx, tonsils and tympanic membranes are erythematous after symptoms.
o cervical lymphadenopathy, bulging anterior fontanelle (if CNS involvement) Distribution: starts at neck and trunk
o fever ceases before rash appears
spreading to face and extremities.
• pink non-pruritic macules and maculopapules
• macules coalesce and disappear in 1-2 d
Treatment
o supportive (acetaminophen)
Complications
o febrile seizures
o encephalitis
Measles
o morbillivirus
o incubation: 10-14 d; infectivity: 4 d pre-rash, spread by airborne route
Measles
Clinical Presentation Appearance: erythematous,
o prodrome: "3 C's" - cough, coryza, conjunctivitis, fever, eyelid edema
maculopapular rash; Koplik spots.
o Koplik's spots (1-2 d before and after rash): small white papules on red base on buccal mucosa Timing: 10-14 d incubation; rash
o maculopapular rash spreads from face and hairline, in a descending fashion to involve the body 3 d after start of symptoms.
over 3d Distribution: starts at hairline spreading
downwards; palms and soles typically
not involved.
Diagnosis
o clinical examination and positive serology for measles IgM
Treatment
o supportive and symptomatic (appropriate treatment of secondary bacterial infection)
o prophylactic immunoglobulin to prevent disease if administered within 6 d of exposure
Complications
o secondary bacterial infection (laryngotracheobronchitis, otitis media, sinusitis),
bronchopneumonia, croup
o encephalitis (1:1000): ataxia, vomiting, seizures, coma
Mumps
• paramyxovirus
• incubation: 12-25 d; infectivity: 7 d pre-parotitis to 7 d post-parotitis, spread by droplets
• diagnosis: urine or saliva for viral serology
Clinical Presentation
• fever, headache, parotitis (bilateral; pushes earlobes up and out), myalgia, malaise
• 30-40% of cases are subclinical with minimal symptoms
Treatment
• supportive
Complications
• meningoencephalomyelitis: over 10% of patients with parotitis
• orchitis, epididymitis, infertility
• pancreatitis: may see elevated serum amylase without symptoms
• other: ocular complications, thyroiditis, hearing impairment, myocarditis, arthritis,
thrombocytopenia, cerebellar ataxia, glomerulonephritis
Clinical Presentation
• prodrome of nonspecific respiratory symptoms and suboccipital adenopathy
• rash
Rubella • pink, maculopapular, initially on face, then spreading to entire body
Appearance: pink, maculopapular rash. • pruritic, disappearing by fourth day
Timing: 14-21 d incubation; rash 1-5 d
after start of symptoms. • congenital rubella syndrome (CRS)
Distribution: starts on face spreading to • mother infected in first 4 months of pregnancy (highest risk)
neck and trunk. • infection in utero, failure of rubella vaccine is <5% and rarely results in CRS
• cataracts/congenital glaucoma, congenital heart disease, hearing impairment (common),
purpura ("blueberry muffin baby"), hepatosplenomegaly, jaundice, microcephaly,
developmental delay, radiolucent bone disease
• prevention: routine childhood immunization, ensure immunity of women of childbearing
age with vaccination
Treatment
• symptomatic
Prognosis
• excellent prognosis in patients with acquired disease
• irreversible defects in congenitally infected patients
Complications
• arthritis/arthralgia: polyarticular (fingers, wrists, knees), lasts days to weeks
• encephalitis
Erythema lnfectiosum
• parvovirus B19, "fifth disease"
• incubation: 4-14 d; infectivity: prior to onset of rash
Clinical Presentation
Erythema lnfectiosum
Appearance: uniform, erythematous,
• initial 7-10 d: flu-like illness with fever
maculopapular rash. • day 10-17: rash appears (immune response)
Timing: 4-14 d incubation; rash 10-17 d • raised, uniform maculopapular lesions on cheeks ("slapped cheek" appearance), forehead,
after symptoms. chin, circumoral sparing
Distribution: bilateral cheeks with • warm, nontender, may be pruritic, may also appear on extensor surfaces, trunk, neck, buttocks
circumoral sparing; can affect trunk and
extremities. • days to weeks: rash fades, may reappear with local irritation (heat, sunlight)
Treatment
• supportive
• blood transfusions for aplastic crisis (e.g. severe anemia; Hgb <60)
Toronto Notes 2012 Infectious Diseases Pediatrics P61
Complications
• arthritis (10%, pain and stiffness in peripheral joints), vasculitis
• infection during pregnancy may lead to fetal hydrops, fetal loss
• aplastic crisis: reticulocytopenia occurs for 1 wk during illness, unnoticed in normal individuals,
but severe anemia in patients with chronic hemolytic anemia
Reye Syndrome
• acute hepatic encephalopathy and noninflammatory fatty infiltration of liver and kidney
• mitochondrial injury of unknown etiology results in reduction of hepatic mitochondrial
enzymes, diagnosis by liver biopsy
• associated with aspirin ingestion by children with varicella or influenza infection
• 40% mortality
Clinical Presentation
• vomiting
• hyperventilation, tachycardia, decerebrate posturing
• respiratory failure
• agitated delirium, coma, death
Treatment
• should be tailored based on severity of presentation
• IV glucose (to counteract effects of glycogen depletion)
• fluid restriction, mannitol (if cerebral edema)
• prevention: avoid aspirin with viral illness
HIV Infection
• see Infectious Diseases, ID29
Epidemiology
• risk of vertical transmission in 20-30% born to untreated HIV infected women (risk decreases
to <1% with appropriate antiretroviral treatment during pregnancy)
• transmission
• infants and children: transplacental (most common), maternal blood, breast milk
• adolescents: sexual intercourse, needles (IV drug use and tattoos), blood products
Risk Factors
• HIV positive mother
• IV illicit drug use (IVDU)
• mother is with HIV positive partner
• unprotected sex
• sexual abuse
• receipt of blood products (rare)
Incubation
• time from contracting infection to developing symptoms is usually <2 yrs, but can be several
years
HIVTesting
• 1st step: screening for HIV Ab with ELISA
• if positive do 2nd step: confirmatory test for Ab using Western blot or immunofluorescence
(sensitivity and specificity of 99%)
• maternal HIV antibodies can persist up to 18 months (can result in a false positive HIV test),
typically retest every 6 months from 0-18 months if asymptomatic
• ifbreastfeeding, repeat test 3 months after stopping breastfeeding
• other tests: viral nucleic acid by PCR, viral culture, viral antigen
• if sexually active, must re-test 6 months after 1st test (if negative)
P62 Pediatrics Infectious Diseases/Neonatology Toronto Notes 2012
Management
• adequate nutrition (breastfeeding contraindicated in developed countries)
• prompt treatment of infections
• prophylaxis
• TMP /SMX for PJP
• azithromycin for mycobacterium avium complex (MAC)
• nystatin, ketoconazole, acyclovir if indicated
• ± IVIg
• immunizations
• all routine immunizations (including MMR and varicella if well)
• pneumococcal and influenza vaccines
• avoid OPV, BCG, and yellow fever
• suppression of HIV
• HAART (highly active antiretroviral therapy)
• HIV positive pregnant women should be offered antiretroviral therapy along with resources for
formula feeding to decrease perinatal transmission
• elective C-section if not on therapy or if significant viral load
Neonatology
Diagnosis
• vital signs
• detailed maternal history
• include prenatal care, illnesses, use of drugs, labour, previous high risk pregnancies,
infections during pregnancy, current infections, duration of ruptured membranes, blood
type and Rh status, amniotic fluid status, gestational age, meconium, Apgar scores
• clinical findings (observe for signs of respiratory distress: cyanosis, tachypnea, retractions, and
grunting)
• laboratory results (CBC, ABG, pH, blood type)
• transillumination of CXR (if suspecting pneumothorax or diaphragmatic hernia)
Management
• ABCs
• suction if meconium present and infant is depressed
• apply tactile stimulation
• provide air/oxygen and assisted ventilation if apneic or HR <100 bpm
• monitor oxygen saturation and heart rate (ifHR <60 bpm, start chest compressions)
• treat the underlying cause
• counsel and provide explanation and support to family
P64 Pediatrics Neonatology Toronto Notes 2012
Neonatal Resuscitation
• assess Apgars at 1 and 5 min
• if <7 at 5 min then reassess q5min, until >7
• do not wait to assign Apgar score before initiating resuscitation
Initial Resuscitation
• anticipation - know maternal history, history of pregnancy, labour, and delivery; prepare
equipment
• steps to take for all infants (before ABCs)
• provide warmth: warm (radiant heater, warm towels), dry the newborn (remove wet towels)
• position and clear airway: "sniffing" position
• stimulate infant (if needed): rub back gently or flick soles of feet EXCEPT if meconium
present (in which case suction FIRST)
• assess breathing, heart rate and colour
• Airway
• if meconium is present and
• baby is vigorous (strong respiratory effort, good muscle tone, HR > 100): suction mouth
and nose after delivery
• baby is not vigorous: free flow 0 2, intubate and suction trachea
• if no meconium is present, remove secretions by wiping mouth and nose with towel or gentle
suction of mouth then nose
• Breathing
• if HR < 100 or apneic, apply positive pressure ventilation (PPV)
• PPV at rate of 40-60/min, with enough pressure to see visible chest expansion
• Circulation
• if HR <60 after 30 sec of effective ventilation, start chest compressions ("60 or less, compress")
• chest compressions at lower 1/3 of the sternum and 1/3 of the AP depth at a rate of 120
events per min (3 compressions:! ventilation= 90 compressions/min:30 breaths/min)
Signs of Sepsis
o no reliable absolute indicator of occult bacteremia in infants <3 months, most specific result has
been WBC<5
o temperature instability (hypo/hyperthermia)
o tachycardia/bradycardia
o lethargy, irritability
Cyanosis
Approach to Neonatal Cyanosis
o 2 major types
o peripheral cyanosis
• can be normal transiently but may indicate sepsis or temperature instability Carboxyhemoglobinemia (secondary
to carbon monoxide poisoning) results
o central cyanosis
in impaired binding of oxygen to
• deoxygenated hemoglobin hemoglobin but does not discolour the
• respiratory blood. Therefore it may not register on
-upper (choanal atresia, macroglossia, airway hypoplasia, laryngeal web/cyst, foreign pulse·oximetry and cyanosis may not be
evident clinically.
body)
- lower (pneumonia, meconium aspiration syndrome (MAS), pneumothorax, Methemoblobinemia pulse oximetry
typically reads higher than the true
diaphragmatic hernia, AV fistula, pulmonary hypoplasia) level of oxyhemoglobin. This is due
• cardiovascular (congenital heart disease, PPHN) to the fact that methemoglobin alters
• neurologic the absorption of red light at the two
- CNS (asphyxia, hemorrhage, seizure, opioids/sedatives) wavelengths that pulse oximetry uses to
predict oxygen saturation.
-neuromuscular (myasthenia gravis, botulism)
• hematologic (polycythemia)
• sepsis
• abnormal hemoglobin (methemoglobinemia, carboxyhemoglobinemia)
Management
o ABGs
o present within 12 h of birth with severe hypoxemia/cyanosis but relatively mild respiratory
distress
Pathophysiology
o persistence of fetal circulation as a result of persistent elevation of pulmonary vascular resistance
o R -7 L shunt through PDA, foramen ovale, intrapulmonary channels -7 decreased pulmonary
Risk Factors
o secondary PPHN, asphyxia, MAS, RDS, sepsis, structural abnormalities (e.g. diaphragmatic
Investigations
o measure pre- and post-ductal oxygen levels
o echocardiogram reveals increased pulmonary artery pressure and a R -7 L shunt, also used to
Treatment
o maintain good oxygenation (Sa02 >95%) in at-risk infants
o 0 2 given early and tapered slowly, minimize stress and hypoxia, alkalinization, inotropes (to
make systemic pressure greater than pulmonary pressure)
o mechanical ventilation, high frequency oscillation (HFO)
o nitric oxide
o extracorporeal membrane oxygenation (ECMO) used in some centres
Apnea
o "periodic breathing" is a normal respiratory pattern seen in newborns in which periods of rapid
respiration are alternated with apneic episodes lasting 5-10 sec
o apnea: absence of respiratory gas flow for more than 15-20 sec (or less if associated with
bradycardia or cyanosis) - 3 types
• central: no chest wall movement
• obstructive: chest wall movement continues
• mixed: combination of central and obstructive apnea
Differential Diagnosis
o in term infants, apnea always requires full work-up
o apnea <24 h - strongly associated with sepsis
o apnea >24h
• CNS
• apnea of prematurity: combination of CNS prematurity and obstructive apnea, resolves
by 36 wks GA, diagnosis of exclusion
• seizures
• intracranial hemorrhage (ICH)
• hypoxic injury
• infectious: sepsis, meningitis, necrotizing enterocolitis (NEC)
• GI: gastroesophageal reflux disease (GERD), aspiration with feeding
• metabolic: hypoglycemia, hyponatremia, hypocalcemia
• cardiovascular: low and high blood pressure, anemia, hypovolemia, PDA, heart failure
• drugs: morphine
Management
o 0 2 , continuous positive airway pressure (CPAP), mechanical ventilation
o tactile stimulation
o medications- methylxanthines (caffeine) stimulate the CNS and diaphragm and are used for
• sepsis
• pneumonia (GBS +others)
o cardiac
• blood loss
• polycythemia
Toronto Notes 2012 Neonatology Pediatrics P67
• anatomic
• tracheoesophageal fistula
• congenital diaphragmatic hernia
• upper airway obstruction (see Otolaryngology, OT43)
• choana! atresia
• Pierre-Robin sequence (retrognathia and/or micrognathia plus cleft palate, and glossoptosis)
• laryngeal (malacia)
• tracheal (malacia, vascular ring)
• mucous plug
• cleft palate
• metabolic
• hypoglycemia
• inborn errors of metabolism (amino acidemia, organic acidemia, urea cycle disturbance,
galactosemia, 1o lactic acidosis)
• neurologic
• CNS damage (trauma, hemorrhage)
• drug withdrawal syndromes
Investigations
• CXR, ABG or capillary blood gas
• CBC, blood cultures, blood glucose
• ECHO, ECG if indicated
Pathophysiology
• surfactant deficiency poor lung compliance due to high alveolar surface tension atelectasis
decreased surface area for gas exchange hypoxia + acidosis respiratory distress
RDS is the most common cause of
• surfactant decreases alveolar surface tension, improves lung compliance and maintains respiratory distress in the preterm
functional residual capacity infant.
• there is usually sufficient surfactant production by 36 wks GA
Risk Factors
• prematurity
• low birth weight
• maternal diabetes: insulin inhibits the cortisol surge necessary for surfactant synthesis
• C-section without labour
• asphyxia, meconium aspiration
• acidosis, sepsis
• male sex
• hypothermia
• second born twin
Clinical Presentation
• signs of respiratory distress (tachypnea, tachycardia, grunting, intercostal indrawing, nasal
flaring, cyanosis, lung crackles)
• onset within first few hours of life, worsens over next 24-72 h
• infants may develop respiratory failure and require ventilation
• CXR: decreased aeration and lung volumes, reticulonodular pattern throughout lung fields with
air bronchograms, atelectasis; may resemble pneumonia, if severe can see white-out
Prevention
• steroid therapy (e.g. Celestone®12 mg q24h x 2 doses) for mothers who are at risk of preterm
birth
• monitor lecithin:sphingomyelin (LIS) ratio with amniocentesis, LIS >2:1 indicates lung maturity "Ground glass" appearance of lungs is
• prophylactic surfactant often given to high risk infants (<28 wks) at birth pathognomonic of RDS.
Treatment
• supportive
• 0 2, assisted ventilation (CPAP, or intubation and mechanical ventilation)
• administer fluids cautiously to avoid pulmonary edema
• endotracheal surfactant administration
Prognosis
• in severe prematurity and/or prolonged ventilation, increased risk of bronchopulmonary
dysplasia (BPD)/chronic lung disease
Complications
• bronchopulmonary dysplasia
• pulmonary air leaks (pneumothorax)
P68 Pediatrics Neonatology Toronto Notes 2012
Pathophysiology
• delayed resorption of fetal lung fluid --) accumulation of fluid in peribronchial lymphatics and
vascular spaces --) tachypnea
Risk Factors
• full term or near-term infant
• no labour/short labour (hypothesized lack of catecholamine release)
• C-section (lungs are not compressed during passage through pelvic floor)
• diabetic mother/gestational weight >4500 g
• maternal asthma
• male sex
Clinical Presentation
• tachypnea within the first few hours of life, mild retractions, grunting, nasal flaring, without
signs of severe respiratory distress
• usually resolves in 24-72 h
• CXR: fluid in fissures, increased vascularity, slight cardiomegaly
Treatment
• supportive: 0 2 , careful fluid administration, may use CPAP
Prognosis
• full recovery expected within 2-5 d
• children with TTN may be at increased risk of developing wheezing syndromes (such as
asthma) in childhood
Clinical Presentation
• respiratory distress within hours of birth
• small airway obstruction, chemical pneumonitis --) tachypnea, barrel chest with audible crackles
• CXR: hyperinflation, streaky atelectasis, patchy and coarse infiltrates
• 10-20% have pneumothorax
Complications
• hypoxemia, hypercapnea, acidosis, PPHN, pneumothorax, pneumomediastinum, pneumonia,
sepsis, respiratory failure, death
Treatment
• supportive care, assisted ventilation (important to maintain adequate oxygenation)
• ventilated infants often require sedation
• may benefit from surfactant replacement
• inhaled nitric oxide, extracorporeal membrane oxygenation at some centres
Prevention
• in utero: careful monitoring
• suctioning of the oro/nasopharynx after delivery of the head is no longer recommended
• at birth: intubate and suction below cords if infant is depressed
• note: presence of meconium staining alone is NOT an indication for tracheal suctioning
• if the infant is vigorous, intubation, and suctioning oflower airway is unnecessary
Pneumonia
• see Pediatric Respirology, P91
• consider in infants with prolonged or premature rupture of membranes (PROM), maternal
fever, or if mother GBS positive
• suspect if infant exhibits temperature instability, WBC low or left -shifted
• symptoms may be non-specific
• CXR: hazy lung + distinct infiltrates (may be difficult to differentiate from RDS)
Toronto Notes 2012 Neonatology Pediatrics P69
Diaphragmatic Hernia
• developmental defect of diaphragm causing herniation of abdominal organs into thorax
• results in pulmonary hypoplasia on affected and contralateral side
• if resuscitation required at birth, DO NOT bag mask because air will enter stomach and further
compress lungs; infant requires endotracheal intubation
Clinical Presentation
• respiratory distress, cyanosis
• scaphoid abdomen and barrel-shaped chest
• affected side dull to percussion and breath sounds absent, may hear bowel sounds instead
• heart sounds shifted to contralateral side
• asymmetric chest movements, trachea deviated away from affected side
• may present outside of neonatal period
• often associated with other anomalies (cardiovascular, CNS lesions)
• CXR: portion of GI tract in thorax (usually left side), displaced mediastinum
Treatment
• surgery
Treatment
• no good treatments
• gradual wean from ventilator, optimize nutrition
• dexamethasone may help decrease inflammation and encourage weaning, however use of
dexamethsone is associated with increased risk of adverse neurodevelopmental outcomes so
indications for use are limited
Prognosis
• patients with BPD continue to have significant impairment and deterioration in lung function
late into adolescence
• studies show an inverse relationship between FEV1 at school age and duration of supplemental
oxygen
• some lung abnormalities may persist into adulthood including: airway obstruction, airway
hyperreactivity, and emphysema
• associated with increased risk of adverse neurodevelopmental outcomes
Hypoglycemia
• glucose <2.6 mmol!L (40 mg/dL)
Etiology
• decreased carbohydrate stores (premature, IUGR)
• infant of a diabetic mother (IDM): maternal hyperglycemia-+ fetal hyperglycemia and
hyperinsulinism-+ hypoglycemia in the newborn infant because of high insulin levels
• sepsis
• endocrine: hyperinsulinism due to islet cell hyperplasia (e.g. Beckwith-Wiedemann syndrome),
panhypopituitarism
• inborn errors of metabolism: fatty acid oxidation defects, galactosemia
Clinical Findings
• signs often non-specific and subtle: lethargy, poor feeding, irritability, tremors, apnea, cyanosis,
seizures
P70 Pediatrics Neonatology Toronto Notes 2012
Management
o identify and monitor infants at risk (pre-feed blood glucose checks)
predisposing cause for hypoglycemia, send the following "critical bloodwork" during an episode
of hypoglycemia:
• insulin
• cortisol
• growth hormone (GH)
•
• lactate
• ammonia
• free fatty acids (FFAs)
• ABG
o treat hyperinsulinism with glucagon and diazoxide
Jaundice
o jaundice visible at serum bilirubin levels of 85-120 f.!mol/L (5-6 mg/dL)
o look at sclera, mucous membranes, palmar creases, tip of nose, frenulum
o jaundice more severe/prolonged (due to increased retention of bilirubin in the circulation) with:
Jaundice is very common - 60% of term
newborns develop visible jaundice. • prematurity
• acidosis
• hypoalbuminemia
• dehydration
Hyperbilirubinema
I
+
UNCONJUGATED CONJUGATED
I
+
Pathologic Physiologic Always pathologic
I I
Jaundice in the first 24 hand
conjugated hyperbilirubinemia are
always pathological.
+
Hemolytic Non-Hemolytic Hepatic
... Post-Hepatic
I Hematoma Infectious Biliary atresia
+
Intrinsic Extrinsic
(cephalohematoma)
Polycythemia
Sepsis
Sepsis
Hep B, TORCH
Metabolic
Choledochal cyst
Membrane Immune
Spherocytosis ABO incompatability Hypothyroidism Galactosemia
Elliptocytosis Rh incompatability Gilbert syndrome Tyrosinemia
Crigler-Najjar a-1-antitrypsin deficiency
Enzyme Kelly, Duffy, etc.
G6PD deficiency Non-immune Hypothyroidism
PK deficiency Splenomegaly CF
Hemoglobin Sepsis Drugs
a thalassemia AV malformation TPN
Idiopathic neonatal hepatitis
Figure 6. Approach to Neonatal Hyperbilirubinema
PHYSIOLOGIC JAUNDICE
Epidemiology
o term infants: onset 2-3 d of life, resolution by 7 d oflife
Pathophysiology
o increased hematocrit and decreased RBC lifespan
o immature glucuronyl transferase enzyme system (slow conjugation of bilirubin)
Ethnic group (e.g. Asian, native American) Birth trauma (cephalohematoma, Difficulty establishing breastfeeding
Complications during pregnancy (infant of ecchymoses) Infection
diabetic mother, Rh or ABO incompatibility) Prematurity Genetic factors
Breastfeeding Polycythemia
Drugs
Toronto Notes 2012 Neonatology Pediatrics P71
Breastfeeding Jaundice
• common
• due to lack of milk production and subsequent dehydration, leading to exaggerated physiologic
jaundice
PATHOLOGIC JAUNDICE
• must be investigated if:
• jaundice at <24 h of age
• serum unconjugated bilirubin rises rapidly or is excessive for patient's age and weight
(>85 f.Lmol!L per day or >220 f.Lmol/L before 4 d of age)
• conjugated bilirubin >35 flmol!L (2.0 mg/dL) "Bronzed" Baby in Infants with
• persistent jaundice lasting beyond 1-2 wks of age Conjugated Hyperbilirubinemia
• investigations Phototherapy results in the production
• unconjugated hyperbilirubinemia: and accumulation of a toxic metabolite
• hemolytic work-up: CBC, blood group (mother and infant), peripheral blood smear, which also imparts a bronze hue on the
baby's skin.
Coombs test, bilirubin (conjugated, unconjugated)
• if baby is unwell or has fever, septic work-up: CBC +differential, blood and urine
cultures ± LP, CXR
• other: G6PD screen (in males), TSH
• conjugated hyperbilirubinemia: consider liver enzymes (AST, ALT), coagulation studies (PT,
PTT), serum albumin, ammonia, TSH, TORCH screen, septic work-up, galactosemia screen
(erythrocyte galactose-1-phosphate uridyltransferase levels), metabolic screen, abdominal
U/S, HIDA scan, sweat chloride
KERNICTERUS
Etiology
• unconjugated bilirubin concentrations exceed albumin binding capacity and bilirubin enters
and is deposited in the brain resulting in permanent damage (often basal ganglia or brainstem)
• incidence increases as serum bilirubin levels increase above 340 f.Lmol/L (19.8 mg/dL)
• can occur at lower levels in presence of sepsis, meningitis, hemolysis, hypoxia, hypothermia,
hypoglycemia and prematurity
P72 Pediatrics Neonatology Toronto Notes 2012
Clinical Presentation
o up to 15% of infants have no obvious neurologic symptoms
o acute form
• first 1-2 d: lethargy, hypotonia, poor feeding, high-pitched cry, emesis, seizures
• middle of first week: hypertonia, opisthotonic posturing (back arching), fever, bulging
fontanelle, pulmonary hemorrhage
o chronic form (first year and beyond)
Prevention
o exchange transfusion
Complications
o sensorineural deafness, choreoathetoid cerebral palsy (CP), gaze palsy, mental retardation
BILIARY ATRESIA
o atresia of the extrahepatic bile ducts
o cholestasis and increased conjugated bilirubin after the first week of life
Clinical Presentation
o dark urine, pale stool, jaundice (persisting for >2 wks), abdominal distention, hepatomegaly
Diagnosis
o conjugated hyperbilirubinemia, abdominal ultrasound
o HIDA scan
o liver biopsy
Treatment
o surgical drainage procedure
sites/IV sites, large caput succedaneum, cephalohematomas (in absence of significant birth
trauma), and prolonged bleeding following circumcision
Pathophysiology
• platelet equivalent of Rh disease of the newborn
• occurs when mother is negative for human platelet antigen (HPA) and fetus is positive
• development of maternal IgG antibodies against HPA antigens on fetal platelets
Epidemiology
• 1/4000-5000 live births
Clinical Features
• petechiae, purpura, thrombocytopenia in otherwise healthy neonate
• severe NAIT can lead to intracranial bleeding
Diagnosis
• maternal and paternal platelet typing and identification of platelet alloantibodies
Treatment
• IVIg to mother prenatally, starts in second trimester; treat neonate with IVIG and transfusion of
infant with washed maternal platelets or donor HPA negative platelets
AUTOIMMUNE THROMBOCYTOPENIA
Pathophysiology
• caused by antiplatelet antibodies from maternal ITP or SLE
• passive transfer of antibodies across placenta
Clinical Presentation
• similar presentation to NAIT, but bleeding usually less severe
Treatment
• steroids to mother x 10-14 d prior to delivery or IVIG to mother before delivery
• IVIg to infant after delivery
• transfusion of infant with maternal/donor platelets only in severe cases, as antibodies will
destroy transfused platelets
Prevention
• vitamin K IM administration at birth to all newborns
Pathophysiology
• postulated mechanism of bowel ischemia mucosal damage, and enteral feeding providing a
substrate for bacterial growth and mucosal invasion, leading to bowel necrosis or gangrene and
perforation
Risk Factors
• prematurity (immature defenses)
• asphyxia, shock (poor bowel perfusion)
• hyperosmolar feeds
• enteral feeding with formula (breast milk can be protective)
• sepsis
P74 Pediatrics Neonatology Toronto Notes 2012
Study: An association between proportion of HM to o signs of bowel perforation (sepsis, shock, peritonitis, DIC)
Risk Factors
o extreme prematurity, need for vigorous resuscitation at birth, pneumothorax, ventilated preterm
infants, sudden increase in arterial blood pressure with volume expansion, hypotensive event,
hypertension, RDS, fluctuating cerebral blood flow, coagulopathy
Clinical Presentation
o many infants with IVH are asymptomatic
o subtle signs: apnea, bradycardia, changes in tone or activity, altered level of consciousness
Classification
o Papile classification
• Grade 1: GM hemorrhage
• Grade II: IVH without ventricular dilatation
• Grade III: IVH with ventricular dilatation
• Grade IV: GM hemorrhage or IVH with parenchymal extension
o parenchymal hemorrhage may also occur in the absence of intraventricular hemorrhage
o routine head ultrasound screening of all preterm infants <32 wks gestation throughout NICU
stay
Prognosis
o outcome depends on grade ofiVH
o short-term outcomes for severe IVH: mortality, posthemorrhagic hydrocephalus (PHH),
posthemorrhagic infarction
o possible long-term major neurological sequelae: cerebral palsy, cognitive deficits, motor deficits,
visual, and hearing impairment
o grades I and II hemorrhages have a relatively favourable prognosis
o greatest morbidity and mortality is seen with Grade IV hemorrhage and PHH requiring
ventriculoperitoneal shunt placement
o premature babies are also at risk of periventricular leukomalacia: radiologically seen as cysts or
ischemic areas in the periventricular white matter; risk of adverse neurological outcome
Toronto Notes 2012 Neonatology Pediatrics P75
Pathophysiology
• early vasoconstriction and obliteration of the capillary bed repair response
neovascularization
• retinal detachment occurs in a small percentage
Risk Factors
• association with period of high oxygen concentrations is not clear
• extreme prematurity is the most significant risk factor
Clinical Presentation
• ROP is classified by stage (I-V, with V being most severe)
• see Ophthalmology, OP41
Assessment
• ophthalmoscopic examination
• infants with birthweight :;:;1500 g or :;:;30 wks GA: starting at 4-6 wks of chronologie age or at
32 wks corrected age (whichever is later) with exams q2-3wks until retinal maturity with no
disease or disease is regressing
• infants with ROP or very immature vessels: exams ql-2wks
Management
• laser photocoagulation for severe prethreshold and threshold ROP
• follow-up eye examinations for myopia, strabismus, amblyopia, glaucoma, and late detachment
Prognosis
• stage I and II: 90% spontaneous regression
• stage Ill+: -50% spontaneous regression
• with treatment, incidence of poor visual outcome reduced by -50%
Nephrology
Dehydration
Table 37. Assessment of Dehydration
Point of Assessment Method
Volume deficit History, physical examination
Osmolar disturbance Serum Na+
Acid-base disturbance Blood pH, pC01, bicarbonate
Potassium Serum K+
Renal function BUN, creatinine, urine specific gravity/osmolality, urine sediment
Principles of Treatment
• provision of maintenance daily fluid and electrolyte requirements (see Table 39)
• PLUS replacement of deficit fluids and electrolytes (see Table 40) - lOcc per% weight loss per kg
• PLUS replacement of ongoing losses (consider urine output, bowel movements/diarrhea, fever)
Common IV Fluids
o first month of life: D5W/0.2 NS + 20 mEq KCl/L (only add KCl if voiding well)
Hematuria
o definition: 2:5 RBC/hpf, in three consecutive centrifuged urine samples
o 0.5-2% prevalence of asymptomatic microscopic hematuria in school-aged children
o history of prior acute infection (upper respiratory, skin or GI) Causes of Coloured Urine with
o family history: dialysis, transplant, SLE, familial hematuria Negative Dipstick
o physical exam: BP, edema, rashes, arthritis URINE BLEAD
Urates
Rifampin
Etiology Ibuprofen
o nephrologic Nitrofurantoin
• glomerular disease Exogenous (food colouring I
• recurrent gross hematuria: IgA nephropathy, benign familial hematuria, Alport syndrome Beets
Lead
• post-streptococcal GN, lupus nephritis, HSP, HUS, Goodpasture disease (rare in childhood)
• tubulointerstitial: ATN, interstitial nephritis, pyelonephritis, hypercalciuria
o infection: bacterial, TB, viral, UTI, pyelonephritis
o hematologic: coagulopathies, thrombocytopenia, sickle cell disease or trait, renal vein thrombosis
False Positive Dipstick (positive
o nephrolithiasis dipstick, but no RBCs): myoglobinuria
o anatomic abnormalities: congenital, trauma, polycystic kidneys, vascular abnormalities, due to rhabdomyolysis, hemoglobinuria
tumours (Wilms) due to intravascular hemolysis or
o other: exercise, drugs
coagulation.
Hemjturia
G!ss
.....
M1croscop1c
Glomerular
I
..
Non-glomerular Symptomatic
I
..
Asymptomatic
.. 1 l Isolated
I
..
Persistent and/or
associated with
lgA nephropathy UTI UTI proteinuria
Benign familial hematuria Perineal irritation Acute glomerulonephritis
Postinfectious glomerulonephritis
HSP nephritis
SLE nephritis
Trauma
Meatal stenosis with ulceration
Coagulopathy
Benign familial hematuria
HSP nephritis
SLE nephritis
Idiopathic
l
Mild/early acute glomerulonephritis
Hypercalciuria/urolithiasis HTN Benign familial hematuria Idiopathic hypercalciuria
Nephrolithiasis Hypercalciuria/urolithiasis
Benign or progressive
Tumour Nephrolithiasis
familial hematuria
Tumour Tumour
Investigations
• CBC, urine dip and culture, Cr, BUN, 24-h urine collection for Cr and protein, Ca2 +, serum C3
and C41evel
• if suspected postinfectious glomerulonephritis: antistreptolysin 0 titer, ANA, throat swab
• if above do not yield a diagnosis, consider U/S ±Doppler to rule out structural anomalies
• treat underlying cause if applicable
• supportive treatment (e.g. antihypertensives, fluid restriction, dietary modifications)
• referral to pediatric nephrologist
• may warrant renal biopsy depending on findings
Proteinuria
• a small amount of protein can be found in the urine of healthy children <4 mg/m2/h or
<100 mg/m2/d
• definition
• qualitative: 1+ in dilute, 2+ in concentrated urine (specific gravity >1.015)
• quantitative: >4 mg/m2/h on timed urine (>40 mg/m2/his nephrotic range)
• urine dipstick is the least accurate (false positives if urine pH >8 or specific gravity> 1.025)
• protein/Cr ratio on spot urine is more accurate (normal <0.5 if 6 months-2 yrs; <0.2 if over 2 yrs)
• 24-h protein is the most accurate (normal <100 mg/m 2/d)
• microalbuminuria assesses risk of progressive glomerulonephropathy in diabetes (normal
<30 mg albumin/gram Cr on first morning void)
• progressive proteinuria is the best predictor of renal disease
• transient proteinuria: due to fever (>38.3°C/101 of), dehydration, exercise, seizures, stress
• persistent proteinuria (;::1 +on dipstick)
• orthostatic (more common in adolescents- usually benign): elevated protein excretion when
upright and normal when recumbent; rarely exceeds 1 g/m2 /d
• glomerular (e.g. nephrotic syndrome, glomerulonephritis)
• tubulointerstitial (e.g. Fanconi syndrome, ATN)
• structural abnormalities of urinary tract (e.g. hydronephrosis)
}1+
Obtain first A.M. void for urine total <0.2 mg protein per mg
Cr and normal U/A Repeat dipstick on first A.M.
protein/Cr ratio and urinalysis
void in one year
with microscopic exam
FURTHER EVALUATION
History (drugs, family history)
Physical exam (including BP)
Serum chemistries e.g. Cr. BUN, Consult with a pediatric nephrologist
electrolytes, cholesterol, and albumin who will consider a kidney biopsy
Also consider (when appropriate) and define appropriate therapy
Renal ultrasonography based on the findings
Serum C3/C4 complement, ANA
Hepatitis B and C serology
HIV testing
Clinical Presentation
o triad: acute renal failure, thrombocytopenia, microangiopathic hemolytic anemia
o initial presentation of abdominal pain and diarrhea, followed by bloody diarrhea
o within 5-7 d the patient begins to show signs of anemia, thrombocytopenia and renal
insufficiency
• history: weakness, lethargy, oliguria
• physical exam: pallor, jaundice (hemolysis), edema, petechiae, hypertension
Investigations
o CBC, platelets, blood smear, urinalysis, BUN, Cr, stool culture and verotoxin/shigella toxin assay
Treatment
o supportive treatment; nutritional support; monitor electrolytes; dialysis if electrolyte abnormality
cannot be corrected, fluid overload, or BUN> 100 mg/dL; pRBC for symptomatic anemia
o steroids not helpful; antibiotics not indicated
Prognosis
o 5-10% mortality, 10-30% kidney damage
Nephritic Syndrome
o acute, subacute or chronic
• hematuria with RBC casts, proteinuria (<50 mg/kg/d, not nephrotic range), azotemia,
hypertension
• renal failure (oliguria) t'
Nephritic Syndrome
POST-STREPTOCCOCAL GLOMERULONEPHRITIS PHAROH
Proteinuria (< 50 mg/kg/d)
Risk Factors Hematuria
o most common in children, aged 4 to 8 yrs old, M > F Azotemia
RBC casts
o occurs 1-3 wks following group A streptococcal infection of skin or throat
Oliguria
Hypertension
Pathophysiology
o antigen-antibody mediated complement activation
o diffuse, proliferative glomerulonephritis
Diagnosis
o elevated serum antibody titres against strep antigens (ASOT, anti-DNAseB)
Prognosis
o 95% of children recover completely within 1-2 wks
o 5-10% have persistent hematuria
Management
o symptomatic treatment: fluid restriction, antihypertensives, diuretics
Nephrotic Syndrome
Clinical Presentation
2
o severe proteinuria (>50 mg/kg/d or >40 mg/m /h)
o hypoalbuminemia <20 g/L ( <2.0 g/dL)
PALE
o edema (usually first sign; initially see facial swelling, especially periorbital, and pretibial edema) Proteinuria (> 50 mg/kg/d)
o hyperlipidemia >5.17 mmol!L (200 mg/dL) HypoAlbuminemia ( < 20 g/L)
o secondary findings: hypocalcemia, hyperkalemia, hyponatremia, hypercoagulability (decreased Hyperlipidemia
Edema
PTT)
PSO Pediatrics Nephrology Toronto Notes 2012
Etiology
Primary Nephrotic Syndrome
• minimal change disease (MCD) (76%)
• peak occurrence between 2-6 yrs of age, more common in boys than girls (2: 1)
• often treated empirically with steroids without kidney biopsy, 90% steroid responsive
• membranous glomerulonephritis (8%)
• focal segmental glomerular sclerosis (FSGS) (7%)
• membranoproliferative glomerulonephritis (5%)
Complications
• risk of infections (e.g. spontaneous peritonitis, cellulitis, sepsis)
• hypercoagulability due to decreased intravascular volume and antithrombin III depletion
(pulmonary embolism, renal vein thrombosis)
• side effects of drugs (diuretics, steroids, immunosuppressants)
• hypotension, shock, renal failure
Investigations
• to rule out secondary causes of nephrotic syndrome: serum complement levels, BUN, Cr, serum
chemistries, ANA, antistreptolysin 0 titre, Hep B/C and syphilis titers
• consider kidney biopsy if:
• HTN (higher risk ofFSGS), steroid resistant, frequent relapses (>2 relapses in 6 month
period), low serum complement, severely decreased renal function
• presentation before first year of life (high likelihood of congenital nephrotic syndrome)
• presentation after 10 yrs of age to rule out more serious renal pathology than MCD
Management
• salt and water restriction: diuretic may be required
• optimal nutrition, including high-quality protein
• daily weights to assess therapeutic progress
• varicella antibody titre if not immune
• pneumococcal vaccine after remission (avoid live vaccines)
• initial treatment ofMCD
• oral prednisone (or equivalent) 60 mg/m2/din divided doses (max. dose 80 mg/d) for up to
12 wks
• a tuberculin skin test should be performed before starting steroid medications
• a measurable decrease in protein excretion may take at least 7 to 10 d following initiation of
treatment, and proteinuria clears by third week of oral prednisone
• up to 2/3 of patients experience relapses
• if unresponsive to steroids, frequent relapses, or steroid-resistant (proteinuria continues beyond
3 months):
• consider renal biopsy or treat with cytotoxic agent (e.g. cyclophosphamide or chlorambucil),
immunomodulating agents such as levamisole and cyclosporine A, and high-dose pulse
corticosteroid with guidance of a pediatric nephrologist
Hypertension in Childhood
Etiology
• consider white coat hypertension for all ages
Investigations
• labs
• urine dipstick for blood and protein (suggests renal disease)
• urine catecholamines and their metabolites (may suggest pheochromocytoma)
• electrolytes, creatinine, catecholamines, renin, aldosterone
Pediatric Blood Pressure Calculation
• imaging sBP= age x 2 + 90
• echocardiography dBP= 2/3 x sBP
• abdominal U/S
• doppler studies, angiography, or radionuclide imaging of renal arteries
Management
• treat underlying cause
• weight reduction, reduction in salt intake, exercise
• first line antihypertensives are thiazide diuretics, but none of the antihypertensives have been
formally studied in children
• referral to specialist
• medications used in hypertensive emergencies: hydralazine, labetalol, sodium nitroprusside
• assessment and management of end organ damage (e.g. retinopathy, LVH)
Neurology
Seizure Disorders
• see Neurology, Nl6
Investigations
• CBC, electrolytes, calcium, magnesium, glucose
• toxicology screen if indicated
• EEG, CT and LP if indicated
• EEG may be indicated for first-time non-febrile seizure
• EEG/CT not indicated to determin recurrence risk of benign febrile seizures or to determine
seizure type or epileptic syndrome
P82 Pediatrics Neurology Toronto Notes 2012
Infantile Spasms
• onset 4-8 months
• brief, repeated symmetric contractions of neck, trunk, extremities (flexion and extension)
lasting 10-30 sec
• occur in clusters; often associated with developmental delay
• 20% unknown etiology; may have good response to treatment
• 80% due to metabolic or developmental abnormalities, encephalopathies, or are associated with
neurocutaneous syndromes; these have poor response to treatment
• can develop into West syndrome (infantile spasms, psychomotor developmental arrest, and
hyperarrythmia) or Lennox Gastaut
• typical EEG: hypsarrhythmia (high voltage slow waves, spikes and polyspikes, background
disorganization)
• treatment: ACTH, vigabatrin, benzodiazepines
Lennox-Gastaut
Ketogenic Diet for Epilepsy
Cochrane Database of Systematic Reviews 2003;
• onset commonly 3-5 yrs of age
lssue3 • characterized by triad of 1) multiple seizure types, 2) diffuse cognitive dysfunction and 3) slow
This systematic review found no randomized trials generalized spike and slow wave EEG
evaluating the use ol ketogenic diet. • seen with underlying encephalopathy and brain malformations
Reviewers' conclusions: Observational studies
suggest that aketogenic diet may decrease
• treatment: valproic acid, benzodiazepines and ketogenic diet; however, response often poor
seizure frequency. The ketogenic diet is apossible
option for those with epilepsy on multiple Juvenile Myoclonic Epilepsy (Janz)
antiepileptic drugs. • adolescent onset (12-16 yrs of age); autosomal dominant with variable penetrance
• myoclonus particularly in morning; frequently presents as generalized tonic-clonic seizures
• typical EEG: 3.5-6 Hz irregular spike and wave, increased with photic stimulation
• requires lifelong treatment (valproic acid); prognosis excellent
Treatment
• anticonvulsants often initiated if >2 unprovoked afebrile seizures within 6-12 months
1. initiate: treatment with drug appropriate to seizure type
2. optimize: start with one drug and increase dosage until seizures controlled
3. if no effect, switch over to another before adding a second anticonvulsant
4. continue anticonvulsant treatment until patient free of seizures for 2 yrs or more, then wean
medications over 4-6 months
• ketogenic diet (high fat diet): used in patients who do not respond to polytherapy or who do
not wish to take medication (valproic acid contraindicated in conjunction with ketogenic diet
because may increase hepatotoxicity)
• education for patient and parents
• privileges and precautions in daily life (e.g. buddy system, showers instead of baths)
• legal obligation to report to Ministry of Transportation if patient wishes to drive
Febrile Seizures
Epidemiology
• most common cause of seizure in children
• 3-5% of all children, M>F
• age 6 months-6 yrs
Toronto Notes 2012 Neurology Pediatrics P83
Clinical Presentation
o thought to be associated with initial rapid rise in temperature
child prior to seizures, family history of complex febrile seizure, multiple simple febrile seizures
Workup
o history: determine focus of fever, description of seizure, medications, trauma history,
o septic work-up including LP if suspecting meningitis (strongly consider if child <12 months;
o EEG not warranted unless complex febrile seizure or abnormal neurologic findings
Management
o counsel and reassure patient and parents (febrile seizures do not cause brain damage, very small
risk of developing epilepsy: 9% in child with multiple risk factors; 2% in child with febrile simple
seizures compared to 1% in general population)
o antipyretics (e.g. acetaminophen) and fluids for comfort (though neither prevent seizure)
Recurrent Headache
o see Neurology, N42
Assessment
o if unremarkable history and neurological and general physical exam is negative, likely diagnosis
rn
is migraine or tension-type headache Headache - Red Flags
o obtain CT or MRI if history or physical reveals red flags
• New headache
• Worst headache of their lives
o inquire about level of disability, academic performance, after-school activities
• Acute onset
• Focal neurological deficits
Differential Diagnosis • Constitutional symptoms
o primary headache: tension, migraine, cluster
• Worse in morning
• Worse with bending over, coughing,
o secondary headache: see Neurology, N43
straining
• Change in level of consciousness
MIGRAINE
o 4-5% of school aged children
Types
o common (without aura): most common in children, associated with intense nausea and vomiting
Clinical Features
o in infancy, symptoms include spells of irritability, sleepiness, pallor, and vomiting
o in a young child, symptoms include periodic headaches with nausea and vomiting; relieved by rest
o usually unilateral throbbing headaches in kids with photophobia or phonophobia
o non-pharmacological treatment and prophylaxis: avoid triggers (poor sleep, stress, cheese,
chocolate, caffeine), biofeedback techniques, exercise
o pharmacological prophylaxis: (e.g. propranolol), antihistamines, antidepressants (e.g.
amitriptyline), calcium-channel blockers, anticonvulsants (e.g. divalproex sodium)
o children >12 yrs can use sumatriptan nasal spray, other tryptans
TENSION HEADACHES
o usually consists of bilateral pressing tightness anywhere on the cranium or suboccipital region,
o most children have insight into the origin of headache: poor self-image, fear of school failure
o red flags: sudden mood changes, disturbed sleep, fatigue, withdrawal from social
activities, chronic systemic signs (e.g. weight loss, fever, anorexia, focal neurological signs)
o treatment
• reassurance and explanation about how stress may cause a headache
• rule out refractory errors in eyesight as cause of headache
• mild analgesia (NSAIDs, acetaminophen)
• supportive counselling
ORGANIC HEADACHES
o organic etiology often suggested with occipital headache and red flags
Hypotonia
o decreased resistance to movement - "floppy baby"
o proper assessment of tone requires accurate determination of gestational age
o evaluate
• spontaneous posture (spontaneous movement, movement against gravity, frog-leg position)
important in evaluation of muscle weakness
• joint mobility (hyperextensibility)
• muscle bulk, presence of fasciculations
o postural maneuvers
• traction response - pull to sit, look for flexion of arms to counteract traction and head lag
• axillary suspension - suspend infant by holding at axilla and lifting; hypotonic babies will
slip through grasp because oflow shoulder girdle tone
• ventral suspension - infant is prone and supported under the abdomen by one hand; infant
should be able to hold up extremities; inverted "U" posturing demonstrates hypotonia, i.e.
baby will drape self over examiner's arms
• also: dysmorphic features, reflexes, power
Causes of hypotonia that respond o investigations will depend on history and physical exam
to rapid treatment: hypokalemia, • rule out systemic disorders
hypermagnesemia, acidemia, toxins, • blood glucose
drugs, hypoglycemia, seizure, infection,
intracranial bleeding, hydrocephalus.
• neuroimaging - MRI
• peripheral CK, EMG, muscle biopsy
• chromosome analysis, genetic testing, metabolic testing, neuromuscular testing
o treatment: counsel parents on prognosis and genetic implications; refer patients for specialized
care, refer for rehabilitation, OT, PT, assess feeding ability
Toronto Notes 2012 Neurology Pediatrics P85
Differential Diagnosis
o central
• chromosomal (e.g. Down syndrome, Prader-Willi, Fragile X)
• metabolic (e.g. hypoglycemia, kernicterus)
• perinatal problems (e.g. asphyxia, ICH)
• endocrine (e.g. hypothyroidism, hypopituitarism)
• infections (e.g. TORCH)
• CNS malformations
• dysmorphic syndromes
o peripheral
• motor neuron (e.g. spinal muscular atrophy, polio)
• peripheral nerve (e.g. Charcot-Marie-Tooth syndrome)
• neuromuscular junction (e.g. myasthenia gravis)
• muscle fibres (e.g. mitochondrial myopathy, muscular dystrophy, myotonic dystrophy)
Etiology
o often obscure, no definite etiology identified in 1/3 of cases
o only 10% related to intrapartum asphyxia
o 10% due to postnatal insult (infections, asphyxia, prematurity with intraventricular hemorrhage
and trauma)
o association with low birth weight babies
Clinical Presentation
Other Signs
o uncoordinated swallowing - aspiration
o microcephaly (25%)
o seizures
o mental retardation, learning disabilities
o delay in motor milestones
o visual, hearing impairment
Investigations
o may include metabolics, chromosome studies, serology, neuroimaging, EMG, EEG (if seizures),
ophthalmology, audiology
Treatment
o maximize potential through multidisciplinary services; important for family to be
connected with various support systems
o orthopedic management (e.g. dislocations, contractures, rhizotomy)
o management of symptoms: spasticity (baclofen, Botox•), constipation (stool softeners)
P86 Pediatrics Neurology Toronto Notes 2012
Neurocutaneous Syndromes
• characterized by tendency to form tumours of CNS, PNS, viscera and skin
Sturge-Weber Syndrome
• port-wine nevus syndrome in Vl distribution with associated angiomatous malformations of
brain causing contralateral hemiparesis and hemiatrophy
• also associated with seizure, glaucoma and mental retardation
Tuberous Sclerosis
• autosomal dominant inheritance; 50% new mutations
• adenoma sebaceum (angiokeratomas on face, often in malar distribution), Shagreen patch
(isolated raised plaque over lower back, buttocks), "ash leaf" hypopigmentation seen with
Wood's lamp (UV light)
• cardiac rhabdomyomas, kidney angiomyolipoma, mental retardation and seizures
• cerebral cortex tubers (areas of cerebral dysplasia); subependymal nodules (SEN) may evolve
into giant cell astrocytomas (may cause obstructive hydrocephalus)
• calcifications within the SEN are seen on CT, MRI (especially around the foramen of Monro)
• these may obstruct the foramen and cause hydrocephalus
Pathophysiology
• immune-mediated inflammatory disorder of the CNS
• characterized by a widespread demyelination predominantly affecting the white matter of the
brain and spinal cord (similar to Multiple Sclerosis)
• usually preceded by a viral infection or vaccination, and is therefore commonly categorized as
either post-vaccination or post-infectious
• absence of clear precedent event has been reported in 26% of patients
Clinical Presentation
• often occurs 2 d to 4 wks after a clinically evident infection or vaccination
• clinical course is rapidly progressive and usually develops over hours to maximum deficits
within days
• headache, nausea, vomiting
• pyrexia/malaise
• rapid onset encephalopathy
• multifocal deficits
• seizures
• pyramidal syndrome
• cerebellar ataxia
• brainstem involvement
Toronto Notes 2012 Neurology/Oncology Pediatrics P87
Investigations
o LP: CSF showing variable pleocytosis and oligoclonal banding
Treatment
o high dose corticosteroids and supportive measures
Prognosis
o favourable, though some residual deficits often exist
Oncology
o cancer is second most common cause of death after injuries in children after 1 year of age
o cause is rarely known, but increased risk with
• chromosomal syndromes (e.g. Trisomy 21)
• prior malignancy
• neurocutaneous syndromes
• immunodeficiency syndromes
• family history
• exposure to radiation, chemicals, biologic agents
o leukemias are the most common type of pediatric malignancy (40%), followed by brain tumours
(20%), and lymphomas (15%)
o some malignancies are more prevalent in certain age groups
• newborns: neuroblastoma, other embryonal tumours e.g. Wilms tumour (nephroblastoma),
retinoblastoma
• infancy and childhood: leukemia, neuroblastoma, Wilms tumour, retinoblastoma
• adolescence: lymphoma, gonadal tumours, bone tumours
o unique treatment considerations because radiation, chemotherapy, and surgery can impact
growth and development, endocrine function and fertility
o most children do survive - treatments have led to remarkable improvements in overall survival
and cure rates for many pediatric cancers (>80%)
Leukemia
o see Hematology, H35, H38, H41, H46
Epidemiology
o mean age of diagnosis 2-5 yrs but can occur at any age
Etiology
o mostly unknown; retrovirus (HTLV) may be associated with T-cellleukemia
Clinical Presentation
o infiltration of leukemic cells into bone marrow results in bone pain, and bone marrow failure
Prognosis
o 80-90% 5-yr event-free survival for ALL, 50% for AML
P88 Pediatrics Oncology Toronto Notes 2012
Lymphoma
• see Hematology, H42
Hodgkin Lymphoma
• incidence is bimodal: peaks at age 15-34 and 50+
• similar to adult Hodgkin lymphoma
'B Symptoms' = fever, night sweats, • most common presentation is persistent, painless, firm, cervical or supraclavicular
unexplained weight loss.
lymphadenopathy
• can present as persistent cough or dyspnea (secondary to mediastinal mass) or less commonly as
splenomegaly, axillary or inguinal lymphadenopathy
• constitutional symptoms (B symptoms) in 30% of children
Non-Hodgkin Lymphoma
• incidence peaks 7-11 yrs
• generally categorized into lymphoblastic, large cell, and Burkitt's/Burkitt's-like lymphoma
• rapidly growing tumour with distant metastases (unlike adult non-Hodgkin lymphoma)
• signs and symptoms related to disease site
• most commonly abdomen, chest (mediastinal mass), head and neck region
Etiology
• mostly unknown; EBV associated with African Burkitt's lymphoma
Treatment
• aggressive multidrug chemotherapy with radiation and surgery to debulk large tumour masses
• 80-90% 5-yr survival in Hodgkin; 50-75% in non-Hodgkin
Brain Tumours
• see Neurosurgery, NS9, NS39
• classified by location and histology
• location: 60% infratentorial (cerebellum, midbrain, brainstem) versus supratentorial
• histology: glial (cerebellar astrocytomas most common), primitive neuroectodermal
(medulloblastoma), neuronal, pineal
Clinical Presentation
• infratentorial: increased ICP (obstruction of 4th ventricle), vomiting, morning headache,
increased head circumference, CN VI palsy, upward-gazing eyes, ataxia, cranial nerve palsies
especially CN VI
• supratentorial: focal deficits, seizures, long tract signs, visual field defects
• evaluation
• history, physical exam including complete neurological exam
• CT and/or MRI of head
Clinical Presentation
• 80% present with asymptomatic, unilateral abdominal mass
• may also present with hypertension, gross hematuria, abdominal pain, vomiting
• may have pulmonary metastases at time of primary diagnosis (respiratory symptoms)
Management
o nephrectomy
Prognosis
o 90% long-term survival
Neuroblastoma
Epidemiology
o most common cancer occurring in first year oflife
o neural crest cell tumour arising from sympathetic tissues (neuroblasts)
Clinical Presentation
o can originate from any site in sympathetic nervous system, presenting as mass in neck, chest or
abdomen mass (most common site is adrenal gland)
o signs and symptoms of disease vary with location of tumour
Investigations
2 2
o CBC, electrolytes, LFTs, renal function tests, LDH, Ca +, Mg +, serum ferritin
• <1 yr old
• stage I, II, IV-S disease ("S" designates a "Special" classification only pertaining to infants)
o primary site: posterior mediastinum and neck
o specific histology
o tumour cell markers
• aneuploidy
• absent N-myc oncogene amplification
Management
o depends on prognostic factors and may include any of the following alone or in combination:
Rhabdomyosarcoma
o third most common extracranial solid tumour of children (after neuroblastoma and Wilms
tumour)
o no clear predisposing risk factors
o common sites of origin are structures of the head and neck, GU tract and extremities
o presentation: firm, painless mass
o metastases to lung, bone marrow and bones
o evaluation: MRI or CT scan of primary site, CT chest, bone scan, bilateral bone marrow
aspirates and biopsies
o treatment: multidrug chemotherapy and surgery
P90 Pediatrics Oncology/Respirology Toronto Notes 2012
Lymphadenopathy
• features of malignant lymphadenopathy: firm, discrete, non-tender, enlarging, immobile,±
suspicious mass/imaging findings, ± 'B' symptoms
• fluctuance, warmth or tenderness are more suggestive of benign nodes
Differential Diagnosis
• infection:
• viral: URTI, EBV, CMV, adenovirus, HIV
• bacterial: S. aureus, GAS, anaerobes, Mycobacterium (e.g. TB), cat scratch disease (Bartonella)
• other: fungal, protozoan, rickettsia
• auto-immune: rheumatoid arthritis, SLE, serum sickness
• malignancy: lymphoma, leukemia, metastatic solid tumours
• storage diseases: Niemann-Pick, Gauchers
• other: sarcoidosis, Kawasaki disease, histiocytoses
Investigations
• generalized LAD
• CBC and differential, blood culture
• uric acid, LDH
• ANA, RF, ESR
Most common cause of acute bilateral • EBV/CMV/HIV serology
cervical LAD is viral illness. • toxoplasma titre
• fungal serology
• CXR
• PPD
• biopsy
• regional LAD
• period of observation in an asymptomatic child
• trial of oral antibiotics
• ultrasound
• biopsy (especially if persistent >6 wks and/or 'B' symptoms)
Respirology
Approach to Dyspnea
• see Table 1, Average Vitals at Various Ages, P3
Dyspnea
I
+
Pulmonary
+
Cardiac
+
Other
1' ICP
i
CHF
+
Upper Airway Lower airway Pleura
Cardiac tamponade
Pulmonary embolus
Ascites
Scoliosis
Foreign body Tracheitis Pleural effusion
Croup Bronchiolitis Empyema
Laryngeal edema Pneumonia Pneumothorax
Epiglottitis Atelectasis
Retropharyngeal Asthma
abscess
Pneumonia
• inflammation of pulmonary tissue, associated with consolidation of alveolar spaces
Clinical Presentation
• incidence is greatest in first year oflife
• viral cause is more common in children <5 yrs old
• viral
• cough, wheeze, stridor
• CXR - diffuse, streaky infiltrates bilaterally
• bacterial
• cough, fever, chills, dyspnea
• CXR - lobar consolidation, possibly pleural effusion
Bronchiolitis
• defined as the first episode of wheezing associated with URTI and signs of respiratory distress
Epidemiology
• the most common LRTI in infants, affects 50% of children in first 2 years of life
• peak incidence at 6 months, winter or early spring
• occurs in children prone to airway reactivity, increased incidence of asthma in later life
Etiology
• respiratory syncytial virus (RSV) (>50%)
• parainfluenza, influenza, rhinovirus, adenovirus
Clinical Presentation
• prodrome of URTI with cough and fever
• feeding difficulties, irritability
• wheezing, respiratory distress, tachypnea, tachycardia, retractions, poor air entry lasting for 5-6 d
• children with chronic lung disease, severe CHD and immunodeficiency have a more severe
course of the illness
Investigations
• CXR (only needed in severe disease, poor response to therapy, chronic episode)
• air trapping, peribronchial thickening, atelectasis, increased linear markings
• nasopharyngeal swab
• direct detection of viral antigen (immunofluorescence)
• WBC usually normal
Treatment
• mild distress
Bronchodilators for Bronchiolitis • supportive: oral or IV hydration, antipyretics for fever
Cochrane Database of Systematic Reviews 201 0;
• humidified 0 2 (maintain 0 2 sat >92%)
Issue 12
Study: Meta-analysis of prospective, randomized, • moderate to severe distress
double-blinded, placebo-controlled trials. • as above - rarely, intubation and ventilation
Patients: 1912 infants (28 trials) up to 24 months • routine use ofbronchodialators (salbutamol, epinephrine) is not recommended but a trial of
old with bronchiolitis. bronchodialators may be appropriate but should be discontinued if no response achieved
Intervention: Bronchodilators (including albuterol,
salbutamol, terbutaline, ipratropium bromide, and
• ipratropium (Atrovent"') and steroids are not effective
adrenergic agents) given oral, subcutaneous, or • consider rebetol (Ribavirin"') in high risk groups: bronchopulmonary dysplasia, CHD,
nebulized vs. placebo. congenital lung disease, immunodeficient
Main outcome: Oxygen saturation. • monthly RSV-Ig or palivizumab (monoclonal antibody against the F-glycoprotein of RSV) is
Results: No clinically significant difference for protective against severe disease in high risk groups
infants treated with bronchodilators vs. placebo
for bronchiolitis. Giventhe costs and side effects
• case fatality rate < 1%
it is not recommended to use bronchodilators as • antibiotics have no therapeutic value unless there is secondary bacterial pneumonia
management for bronchiolitis in infants. • indications for hospitalization
• hypoxia: 0 2 saturation <92% on initial presentation
• persistent resting tachypnea >60/minute and retractions after several salbutamol (Ventolin"')
masks
• past history of chronic lung disease, hemodynamically significant cardiac disease,
neuromuscular problem, immunocompromised
• young infants <6 months old (unless extremely mild)
• significant feeding problems
• social problem (e.g. inadequate care at home)
Toronto Notes 2012 Respirology Pediatrics P93
Asthma
• see Respirology, R6
• characterized by recurrent episodes of airway hyperreactivity, bronchospasm and inflammation,
reversible small airway obstruction
• very common, presents most often in early childhood
• associated with other atopic diseases such as allergic rhinitis or atopic dermatitis, often family
history of asthma and/or atopy
Clinical Presentation
• episodic bouts of
• wheezing
• dyspnea
• cough: at night, early morning, with activity, with cold exposure
• tachypnea
• physical exam may reveal hyper-resonant chest, prolonged expiration, wheeze
Triggers
• URTI (viral or Mycoplasma)
• weather (cold exposure, humidity changes)
• allergens (pets), irritants (cigarette smoke)
• exercise, emotional stress
• drugs (aspirin,
Classification
• mild asthma
• occasional attacks of wheezing or coughing ( <2 per wk)
• symptoms respond quickly to inhaled bronchodilator
• moderate asthma
• more frequent episodes with symptoms persisting and chronic cough
• decreased exercise tolerance
• severe asthma
• daily and nocturnal symptoms
• frequentER visits and hospitalizations
Management
• acute
• 0 2 to keep 0 2 saturation >92%
• fluids if dehydrated
• salbutamol (Ventolin'") 0.03 cc/kg in 3 cc NS q20min by mask until
improvement, then masks hourly if necessary
• ipratropium bromide (Atrovent'") if severe: 1 cc added to each of first 3 salbutamol masks
• steroids: prednisone (2 mg/kg in ER, then 1 mg/kg daily x 4 d) or dexamethasone
(0.3 mg/kg/d)
• in severe disease, give steroids immediately since onset of action is slow (4 h)
• indications for hospitalization
• pre-treatment 0 2 saturation <92%
• past history of life-threatening asthma (ICU admission)
• unable to stabilize with masks q4h
• concern over environmental issues or family's ability to cope
• chronic
• education, emotional support, avoid allergens or irritants, develop an "action plan"
• exercise program (e.g. swimming)
• monitoring of respiratory function with peak flow meter (improves adherence and allows
modification of medication)
• PFTs for children >6 yrs
• reliever therapy: short acting (e.g. salbutamol)
• controller therapy: low dose daily inhaled corticosteroids (less than 200 meg dose of
hydrofluroalkane (HFA) beclamethasone equivalent) are first line for children of all ages
• second line therapy for children under 12: increase dose of daily inhaled corticosteoroids to
moderate range (200-400 meg dose ofHFA beclamethasone equivalent)
• second line therapy children 12 and older: long acting in conjunction with low
dose inhaled corticosteroids
• leukotriene receptor antagonist monotherapy may be considered as an alternative second
line therapy in children of all ages
• for severe asthma unresponsive to first and second line treatments injection immunotherapy
can be used
• aerochamber for children using HFAs
P94 Pediatrics Respirology Toronto Notes 2012
• Canadian Paediatric Asthma Consensus Guidelines for assessing adequate control of asthma:
L daytime symptoms <4 d/wk
2. night time symptoms < 1 night/wk
3. normal physical activity
4. mild and infreqeunt exacerbations
5. no work/school absenteeism
6. need for beta agonist <4 doses/wk
7_FEV1 or peak expiratory flow 2:90% of personal best
8. peak expiratory flow diurnal variation <10 to 15%
Rheumatology
Infectious
Septic arthritis X X X
Osteomyelitis X X X
Inflammatory
Transient synovitis X X
JIA X X X
Seronegative spondyloarthropathy X
SLE X
Oennatomyositis X
HSP X
Anatomic/Orthopedic
Legg.Calve·Perthes disease X X
Slipped capital femoral epiphysis X
Osgood·Schlatter disease X
Neoplastic
Leukemia X X X
Neuroblastoma X X X
Bone tumour X X
Hematologic
Hemophilia jhemarthosis) X X X
Sickle cell anemia X X X
Pain Syndromes
Growing pains X X
Fibromyalgia X
Reflex sympathetic dystrophy X
Investigations
• CBC, differential, blood smear, ESR, CRP
• x-rays of painful joints/limbs
• as indicated: blood C&S, ANA, RF, PTT, sickle cell prep, viral serology, immunoglobulins,
complement, urinalysis, synovial analysis and culture, TB test, ASOT, slit lamp
Septic Arthritis
• medical emergency
• cause: puncture wound, hematogenous or continuous spread from adjacent infection (e.g.
osteomyelitis)
• clinical presentation: acute monoarthritis with erythema, warmth, swelling, intense pain on
passive movement (pain may be so severe that it causes pseudoparalysis of involved limb), fever
and chills
• definitive test: joint aspirate and culture
• management: proper antibiotic selection requires knowledge oflikely bacterial pathogen at
various ages
Growing Pains
---------------------------------------------------
• age 2-12 yrs, M=F
• diagnosis
• intermittent, well between episodes
• poorly localized pain in the legs
• usually bilateral
• occurs in evening or awakens child at night
• responds to reassurance, massage or analgesics
• resolves completely in the morning
• no associated systemic symptoms (e.g. fever)
• possible family history of growing pains
• normal physical examination
• lab investigations not necessary if typical presentation
Transient Synovitis
• age 3-10 yrs, M>F
• benign, self limited disorder, usually occurs after upper respiratory tract infection, pharyngitis,
otitis media
Clinical Presentation
• afebrile or low-grade fever, pain typically occurs in hips, knees, painful limp but still capable of
ambulating
• symptoms resolve over 7-10 d
Investigations
• WBC, ESR, CRP within normal limits
• x-ray is typically normal
• U/S may show joint effusion
• must exclude septic arthritis, osteomyelitis, AVN, slipped capital femoral epiphysis (SCFE)
Treatment
• symptomatic and anti-inflammatory medications
• often involves large and small joints of hands and feet, TMJ, cervical spine
• patients, especially those who are ANA positive, are prone to chronic uveitis
o RF positive
Enthesitis-Related Arthritis
o arthritis and/or enthesitis with at least two of:
• sacroiliac tenderness and/or inflammatory spinal pain
• human leukocyte antigen B27 (HLA B27) positive
• family history of confirmed HLA B27 -associated disease in a 1' 1 or znd degree relative
• symptomatic (acute) anterior uveitis
• onset of arthritis in a boy >8 yrs
Psoriatic Arthritis
o arthritis and psoriasis or arthritis, and at least two of:
Unclassified
o arthritis of unknown cause that persists for 6 wks and either does not fulfill criteria for any
category or fulfills criteria for more than one category
Management
o children may complain very little about their pain and disability
Reactive Arthritis
o see Rheumatology. RH23
o arthritis follows bacterial infection especially with Salmonella, Shigella, Yersinia, Campylobacter,
Chlamydia, and Streptococcus (post-streptococcal reactive arthritis)
o prognosis:
• typically resolves
• may progress to chronic illness or Reiter's syndrome (urethritis, conjunctivitis)
Lyme Arthritis
o see Infectious Diseases, ID2 7
o caused by spirochete Borrelia burgdorferi
o incidence highest among 5-10 yr olds
o arthritis begins months after initial infection (late Lyme disease)
o typically involves large joints, especially knees (affected in >90% of cases)
o large, expanding erythematous macule with fever= erythema migrans of (early) Lyme disease
• early disseminated disease: neurologic (meningitis, cranial nerve palsy, and/or
radiculopathies) and cardiac (AV block, myocarditis)
o management: dosage and duration depends on clinical manifestation
• doxycycline, or amoxicillin for 28 d; ceftriaxone if recurrent or accompanied by neurologic
disease; do not treat children <8 yrs old with doxycycline as it may cause permanent
discolouration of teeth
P98 Pediatrics Rheumatology Toronto Notes 2012
Vasculitides
HENOCH-SCHONLEIN PURPURA (HSP)
• most common vasculitis of childhood
• vasculitis of small vessels
• peak incidence 4-10 yrs, M:F = 2:1
• recurrence in about one third of patients
• often have history of URTI 1-3 wks before onset of symptoms
Clinical Presentation
• skin: palpable, non-thrombocytopenic purpura in lower extremities and buttocks, edema,
scrotal swelling
• joints: arthritis/arthralgia involving large joints
• GI: abdominal pain, GI bleeding, intussusception
• renal: IgA nephropathy, hematuria, proteinuria, hypertension, renal failure in <5%
Management
• symptomatic, corticosteroids may relieve abdominal pain
• monitor for renal disease, may develop late
• immunosuppressive therapy for severe renal disease
Prognosis
• self-limited disease in 90%
Kawasaki Disease
• acute vasculitis of unknown etiology
• mainly affecting medium-size arteries
• most common cause of acquired heart disease in children
• peak age <5 yrs; East Asians > Blacks > Caucasians
Diagnostic Criteria
• fever persisting 5 d or more AND
• 4 of the following features:
Diagnostic Criteria for Kawasaki 1. bilateral nonpurulent conjunctivitis
Disease 2. red fissured lips, strawberry tongue, erythema of oropharynx
Warm CREAM 3. changes of the peripheral extremities
Fever d • acute phase: erythema, edema of hands and feet
Conjunctivitis • subacute phase: peeling from tips of fingers and toes
Rash
Edema/Erythema (hands and feet)
4. polymorphous rash
Adenopathy 5. cervical lymphadenopathy > 1.5 em in diameter
Mucosal involvement • exclusion of other diseases (e.g. scarlet fever, measles)
• atypical Kawasaki disease: less than 5 of 6 diagnostic features but coronary artery involvement
Associated Features
• acute phase (as long as fever persists, about 10 d)
• most of diagnostic criteria present
• irritability, aseptic meningitis, myocarditis, pericarditis, CHF
• diarrhea, gallbladder hydrops, pancreatitis, urethritis, arthritis
• subacute phase (resolution of fever, peeling of skin, elevated ESR and platelets, usually days 11-21)
• arthritis
• beau's lines seen on nail growth
• convalescent phase (lasts until ESR and platelets normalize, >2 1 d)
• coronary artery aneurysms, aneurysm rupture, myocardial infarction (MI), CHF
Management
• high (anti-inflammatory) dose of ASA while febrile
• low (anti-platelet) dose of ASA in subacute phase until platelets normalize or longer if coronary
artery involvement
• IV immunoglobulin (2 g/kg) preferably within 10 d of onset reduces risk of coronary aneurysm
formation
• baseline 2D-echo and follow up periodic 2D-echocardiograms (usually at 6 wks)
Complications
• coronary artery vasculitis with aneurysm formation occurs in 20-25% of untreated children,
<5% if receive IVIG within 10 d of fever
• 50% of aneurysms regress within 2 yrs
• anticoagulation for multiple or large coronary aneurysms
• risk factors for coronary disease: male, age < 1 or >9 yrs, fever > 10 d
Toronto Notes 2012 Common Medications/References Pediatrics P99
Common Medications
Table 50. Commonly Used Medications in Pediatrics
Drug Name Dosing Schedule Indications Comments
acetaminophen (Tylenol®) 10-15 mg/kgldose PO q4-6h prn Analgesic, antipyretic
amoxicillin (Amoxil®) 80-90 mg/kgld PO divided qBh Otitis media
dexamethasone 0.6 mg/kg IV x 1 Croup
0.3 mg/kgld PO Acute asthma
fluticasone (Fiovent®) moderate dose- 250-500 flg/d divided bid Asthma
high dose - > 500 flg/d divided bid
ibuprofen (Advil®) 5-1 0 mg/kgldose PO q6-8h Analgesic, antipyretic Cautious use in patients
with liver impairment,
history of Gl bleeding or
ulcers
iron 6 mg/kgld elemental iron OD or divided tid Anemia Side effects: dark stool,
constipation, dark urine
prednisone 1-2 mg/kgld PO x 5 d Asthma Oral prednisone is bitter
prednisilone 3-4 mg/kgld PO then taper to 1-2 mg/kgld ITP tasting, consider using
PO once platelet count > 30 x 109/L Nephrotic syndrome prednisilone
60 mglm1/d PO
salbutamol (Ventolin®) 0.01-0.03 ml)kgldose in 3 ml normal saline Acute asthma
via nebulizer q1/2-4h prn
100-200 flg/dose pm, max frequency q4h Maintenance treatment
for asthma
From Lau, E.l2009l The 2010-2011 Formulary- The Hospftal for Sick Children
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levy RG, Cooper Ketogenic diet for epilepsy. Cochrane Database of Systematic Reviews 2003, Issue 3.
lewis OW, Ashawal S, Dahl G, et al. The Quality Standards Subcommittee of the America Academy of Neurology. The Practice Committee of the Child Neurology Society. Practice parameter: Evaluation of children and
adolescents with recurrent headaches. Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the ChildNeurology Society. Guideline. Neurology. 2002; 5914):490-8.
lewis, Det al. Practice Parameter: Pharmacological treatment of migraine headache in Children and adolescents. American Academy of Neurology. Neurology. 2004; 63:2215-24.
Tenembaum S. Disseminated encephalomyelitis in Children. Clinical Neurology and Neurosurgery. November 2007. Elsevier.
Oncology
Brodeur GM, Pritchard J, Berthold F. et al. Revisions of the international criteria for neuroblastoma diagnosis, staging, and response to treatment. J Clin Oneal. 1993; 1118):1466-77.
Pharmacology
Hospital for Sick Children. Formulary of Infant and Enteral Formulas. February 2006.
Kowalczyk AlEd.). The 2004-2005 Formulary- The Hospital for Sick Children. Toronto: The Graphic Centre, HSC.
Respirology
Canadian Cystic Fibrosis Patient Data Registry Report. Canadian Cystic Fibrosis Foundation. 2008
Gadomski AM, Brower M. Bronchodialators for bronchiolitis. CochraneDatabase of Systematic Reviews 2010, Issue 12
Garrison MM, Christakis DA, Harvey E, Cummings P, Davis Rl. Systemic corticosteroids in infant bronchiolitis: ameta-analysis. Pediatrics. 2000; 105:e44.
Jain, land Dudell G. Respiratory Transition in Infants Delivered by Cesarean Section. Seminars in Perinatology. 2006.
Lougheed et al. Canadian Thoracic Society Asthma Management Continuum- 2010 Consensus Symmary for children six years of age and over, and adults. Canadian Journal of Respirology. 2010; 1711):15-24.
Summary of recommedations from the Canadian Asthma Consensus Guidelines, 2003 and Canadian Pediatric Asthma Consenusus Guidelines, 2003lupdated to December 2004) CMAJ. 2005; 173lsuppi):S1-56.
Rheumatology
Newburger JW, Takahashi M, Gerber MA, et al. Diagnosis, treatment, and long-term management of Kawasaki disease: astatement for health professionals from the Committee on Rheumatic Fever, Endocarditis and Kawasaki
Disease, Council on Cardiovascular Disease in the Young, American Heart Association. Circulation. 2004; 110117):2747-71.
Olson JC. Rheumatic Diseases of Childhood. Nelson's Essentials of Pediatrics. Third Edition. W.B. Saunders co. pp299-314, 1998.
Schneider R. Pinpointing the cause of limb pain in children. Pediatrics. 1993:576-83.
Wormser, GP, Dattwyler, RJ, Shapiro, ED, et al. The Clinical Assessment, Treatment, and Prevention of Lyme disease, Human Granulocytic Anaplasmosis, and Babesiosis: Clinical Practice Guidelines by the Infectious Diseases
Society of America. Clin Infect Dis 2006; 43:1089.
Web-based Resources
http://www.medscape.corntllome/topics/pediatrics
http.//www.icondata.com/health/pedbase
http://www.cda-adc.ca
http://www.aboutkidshealth.ca
http://www.healthychildren.org
http://www.publichealth.gc.ca