Jervell & Lange-Nielsen Syndrome

- Autosomal Recessive congenital prolonged QT interval

- It is caused by molecular defects in K+ channel.
- Patients are at high risk of Syncope and threatening tornado de pointes and sudden death
- Tx =
- Refrain from vigorous exercise
- Avoid meds that lengthen QT interval
- Maintain normal levels of Ca2+, K+ and Mg2+
- Beta Blockers (propranolol) - Class II Anti-arrhythmic - DOC to shorten QT and blunt heart exertion
- Symptomatic Patients (headache, palpitation) = B-blocker + pacemaker
Depolarization and Repolarization of ventricles occur during QT interval
- Normal QT interval < 440ms in males and <460ms in females
- Prolonged QT can also be caused by
- Electrolyte disturbance = Hypocalcemia, Hypokalemia, Hypomagnesia
- Meds = Amiodarone, Quinidine, Procainamide, Felcainaide, Sotalol, Ondansetron, Methadone/Oxycodone, TCA, Antipsychotics,
Macrolides, Fluroquinolones
P = Boy fainted while running, ECG shows prolong QT; Tx? Propranolol and Pacemaker
Immune Thrombocytopenia (ITP)
- Low platelet of < 100,000 resulting in increased propensity for bruising and bleeding
- Common at age 2-5 years
- Antibodies bind to platelets and destroy antibody-platelet complex in the Spleen
- It is preceded by viral infection - presents with purport and petechiae
- Lab = Thrombocytopenia and megakaryocytes on Peripheral smear
Tx in Children
- Self-limited with spontaneous recovery within 6 months
- Skin manifestation only = Observe w/o treatment regardless of platelet count
- Bleeding = IVIg or Glucocorticoids are first line in patients who experience bleeding.
Tx in Adults
- Give glucocorticoids and IVIg if = platelet <30,000 OR Bleeding
- Observe = Platelet > 30,000 w/o bleeding
P = Boy with bruises, petechiae, no bleeding, Platelet 40,000, megakaryocytes on smear. Tx = Observe
Infantile Hypertrophic Pyloric Stenosis
- MC in first born boys
- Begins at age 3-5 weeks with projectile non bilious vomiting after every feed.
- Palpable olive-mass in RUQ; Peristaltic wave moving from L to R across upper abdomen before emesis
- Lab = Hypochloremia, Hypokalemia, Metabolic Alkalosis
- Dx = Abdominal U/S = shows elongated thickened pylorus
Tx

- TOC = Pyloromyotomy but infants with signs of dehydration or lab abnormalities should be given IV hydration and electrolyte
replacement first.
P = 6 weeker with non bilious projectile vomiting, electrolytes are wacked, Next Best step? IV fluid/electrolytes
Bleeding Disorders
- MC bleeding disorder in children = Hemophilia and vWF disease.
- Hemophilia commonly presents with Hemarthrosis, soft tissue hematoma after minor trauma.
- vWF commonly presents with easy mucosal bleeding
- Which labs to order initially? Coags and CBC to evaluate anemia and thrombocytopenia
P = 3y/o boy fell when running, bruise easily, knee swelling, mom has no bleeding problem, dad is unknown, Lab? Coags and CBC
Suspect Non-accidental trauma in children when history is inconsistent with injuries. Non-accidental trauma
- Coup=countercoup injury ~ subdural and epidural hematoma
- Long bone fracture in humerus of femur
- Linear type immersion burns
- Frenulum tears and gingival lesions
- Retinal hemorrhage on fundoscopic exam

Orbital Cellulitis
- Infection of orbital soft tissue
- Patient presents with pain with eye movement, proptosis, ophthalmoplegia and diplopia
- Bacterial sinusitis is the MC predisposing factor b/c ophthalmic venous system is valveless and is in close proximity to sinus
- Complications = blindness, abscess,
P = 5 y/o with eye pain, blurred vision, headache, painful eye movement. Predisposing factor? Bacterial Sinusitis
Malaria
- Plasmodium falciparum - primary cause of morbidity and mortality in Africa
- Sx = Cyclic fever, non-specific symptoms - malaise, headache, abdominal pain, nausea, vomiting
- Dx = confirmed by microscopic visualization of Giemsa-stained parasite on thick and think smears
- Carriers of Sickle Cell Trait are inherently protected from sever disease as misshapen RBCs create sub-optimal environment for
parasite proliferation.
P= 3y/o AA boy with spiking fever after recent hx of Nigeria travel. He has Sickle Cell Trait. What decrease morbidity of this dz? SCT b/c
this boy has malaria
Monosymptomatic Enuresis (Isolated)
- Urinary incontinence not explained by another medical condition and it occurs at least twice a week after age 5
- Boys with family history of delated bladder control are predisposed to prolonged bed wetting
- Workup = UA; Urological imaging for children with sig. daytime sx & UTI hx
- Management:
- Behavior Modification = avoid caffeine/sugary drinks; void regularly, Drink ample fluids, Reward system
- Enuresis Alarm = 1st line intervention when behavioral mod fails ~ most effective long term
- Pharm = 1st line Desmopressin - ADH hormone (SE = relapse and hyponatermia); if it fails 2nd line is TCA (imipramine)
Iron Deficiency Anemia
- Fe deficiency is the MC nutritional deficiency in children
- It is caused by excessive consumption of cows milk (> 24 ounces or 700mL / day)
- Anemia is secondary to low Fe content of milk
- Lab = Earlier lab finding in Fe-def Anemia is Red-Cell Distribution width (RDW) 0f > 20%
Other MCC of anemia in children is Thalassemia - diff from Fe-def anemia by RDW
X-linked Agammaglobulinemia (Burtons Tyrosine Kinase)
- Characterized by recurrent bacterial infection early in life.
- Lab = Normal amount of T-lymphocytes (CD3 positive) with low or absent concentration of B lymphocytes (CD19 positives)
- Tx = Regular IV Ig infusion
Absence (petit mal) Seizures
- Sudden cessation w/o warning of mental activity
- Episode lasts longer than 30 seconds
- Return of consciousness is abrupt and there is no postictal somnolence or confusion.
- Dx = EEG study
Viral Meningitis
- Self-limited inflammation of leptomeninges caused by viral infection.
- 90% of cases are caused by non-polio Enterovirus = Echovirus and Coxsackievirus.
- Infants are most commonly affected; incidence decreases with increasing age
- Sx = constitutional, URI, fever, nuchal rigidity
- CSF shows = Pleocytosis (lymphocytic proliferation), normal protein level, glucose is normal
- Tx = Supportive
Myotonic Muscular Dystrophy Type 1
- Autosomal dominant expansion of CTH trinucleotide repeat on DMPK gene on chromosome 19q
- MC in adolescent and young adult - age 12-30
- Sx =
- Myotonia (delayed muscle relaxation) - patient unable to release hand after a hand shake.
- Skeletal muscle weakness is seen in face, forearms, hands and ankle dorsiflexors (b/l foot drop)
- Dysphagia
- Cardiac involvement causes conduction problems and arrhythmias.
NOTE = DMD and BMD are X-linked Dominant

Vesicoureteral Reflux (VUR)

- Retrograde flow of urine from the bladder up into the ureter and renal pelvis
- VUR is present in 30-45% of children with UTI.
- It is a risk factor for recurrent UTI ~ which in turn can cause Renal Scarring.
- Gold Standard to diagnose VUR = Voiding Cystourethrogram (VCUG)
- AAP says that children with first UTI at age 2-24 months undergo Renal and Bladder U/S to evaluate for anatomic abnormalities as
that might predispose to VUR
- VCUGs are recommended in patient with recurrent UTIs. (However, normal Renal U/S is generally reassuring
Human Milk
- AAP recommends exclusive breastfeeding until 6 months of age and then continue breastfeeding along with the introduction of solid
food until infant is 1 year old.
- Major protein source is Whey which is more easily digested than casein and helps improve gastric emptying
Cystic Fibrosis
- MC Autosomal Recessive disorder in white people
- Defective Chloride transport causes viscous secretion in multiple organs - lungs, sinuses, pancreas
- If CF is not recognized by New-born screening or Meconium Ileum at birth - growth failure and recurrent sinopulmonary
infections occurs
- Pancreatic insufficiency begins at birth and obstruction of pancreatic duct impairs secretion and production of amylase and lipase
resulting in fat malabsorption and growth failure.
- Growth chart shows deceleration in weight > or = 2 major percentiles followed by deceleration in length growth
- Sx = Steatorrhea (greasy, foul smelling stools), Def. of Fat soluble vitamins A, D, E, K can present as night blindness, fractures,
neuropathy, easy bruisability
- Infants also suffer from persistent coughing and wheezing leading to Bronchiectasis.
- Boys will probably be infertile too.
Note = Constitutional Growth Delay = simultaneous deceleration in length and weight before age 2 and normal growth velocity after age
2 years.
UTI
- Characterized by Suprapubic pain, dysuria and on UA pyuria and bacteriuria
- Urethra and bladder are usually sterile.
- UTI occurs when bacteria around the vaginal introitus ascends the urethra to the bladder.
- Women are at increased risk for UTI due to shorter urethra
- Predisposing factor = recent sexual activity - honeymoon, cystitis
- E. Coli is the MCC of UTI
- Untreated Cystitis can spread up the ureters to the kidneys causing Pyelonephritis
Cystitis = Dysuria, frequency, urgency, hematuria, suprapubic pain
Pyelonephritis = Fever > 38C, chills, Flank pain, CVA tenderness,
- In both = Dx is UA and Urine culture.
- Tx = Antibiotics
Tetralogy of Fallot
- Characterized by: PROV
- Pulmonary artery Stenosis
- RVH
- Overriding Aorta
- VSD
- Clinical presentation depends on degree of RV outflow tract obstruction.
- Cyanosis occurs due to R-L shunt in patient with severe RVOT obstruction
- Murmur is harsh, systolic ejection over Left Upper Sternal Border
- Squatting increases peripheral systemic vascular resistance (after-load) and so decreases the R-L shunt across the VSD. This
improves cyanosis and increases the intensity of murmur due to increase flow across RVOT
Phenylketonuria
- Autosomal recessive mutation in Phenylalanine Hydroxylase. This causes failure to convert Phenylalanine into Tyrosine and results
in Hyperphenylalaninemia and neurological injury
- Sx = intellectual disability, seizures, Musty odor, Hypo-pigmentation of hair, skin (fair color), eyes.
- Dx = New born screening (Tandem mass spectrometry of dried blood), Quantitative Aminoacid analysis is done later at birth
- Tx = Dietary restriction of Phenylalanine
Phenylalanine is an essential AA

Lyme Disease
- Erythema Migrans after travel to Lyme-endemic area is pathognomic for Lyme disease
- Annular rash develops at the site of tick bite as uniform area of erythema
- As rash gradually expands, an area of central clearing with necrotic center that resemble target or bulls eye develops.
- Caused by Borrelia Burgdorferi - transmitted by Ixodes tick
- NOT transmitted by water or food
Recommend prior to trip = wear long pants and shirts to prevent ticks from attaching to skin. Apply insect repellant containing DEET
and permethrin.
Endemic Areas = MN, WI, PA, NY, CT, MA, NH, VT, ME, DE, MD, NJ, RI
Unilateral Cervical Lymphadenitis
- Rapidly enlarging fluctuant cervical lymph nodes in children
- MCC is Streptococcal or Staphylococcal infection.
- Tx = Incision and drainage of the mass + Antibiotic against these 2 organism (Clindamycin is best since it overs Strep and Staph).
Clindamycin is also often effective against strain of MRSA
P = 7 y/o boy with fever and left sided neck swelling. He has red anterior cervical mass of 2cm.
Autism Spectrum Disorder
- Social Isolation, Poor eye contact, limited play and speech delay = suggest ASD
- It is x 4 more common in males
- Lack of social play and impaired joint attention (lack of pointing or bringing objects to others)
- Odd Repetitive behavior (lining up toys) and rigid adherence to routines (distress over small changes)
Celiac Disease
- Cause of malabsorption and can lead to Fe def. Anemia
- Commonly associated with DM1 and Dermatitis Herpatiformis
- Sx = diarrhea (but can be subtle) and moderate weight loss
- Management = do IgA anti-tissue transglutaminase antibody (very sensitive) and UGI endoscopy with small intestine biopsy
P = 2 y/o with DM1 and erythematous vesicles on extensor surface of elbows and knees. Neg occult stool. 8lb weight loss. Low ferritin.
Abnormal Uterine Bleeding
- In Adolescent, it usually occurs due to Anovulatory cycles from an immature hypothalamic-pituitary-ovarian axis.
- Without ovulation, they have persistent endometrial proliferation followed by heavy menses in cycles when ovulation does occur
- Tx = First Line is High Dose Estrogen (conjugated equine estrogen) IV or oral.
- Estrogen works by promoting regrowth of endometrium over denuded epithelial surface Progesterone can be given to those who
are CI to estrogen. Tranexamic acid (antifibrinolytic) used in patient CI to both Estrogen and Progesterone
P = 16 y/o girl with painless heavy vaginal bleeding, irregular period since menarche at 14, period skips up to 4 month
Anemia of Prematurity
- After delivery, EPO normally decreases due to increased O2 concentration in tissue. Decrease EPO causes decreased reticulocyte
production in bone marrow. As a result RBC nadir is expected and occurs at age 2-3 months in term infants.
- In preterm infants, low EPO levels are exacerbated by short RBC life span (Fetal RBC lives 40-50 days) and frequent phlebotomy in
NICU. This causes early onset Anemia
- Infants are asymptomatic.
- Lab = low H & H and low Retic count. RBC are normal under microscope.
- Tx = minimize blood draws, ensure Fe intake. RBC transfusion is given if infant is symptomatic but will further suppress EPO and
delay recovery.
Retropharyngeal Abscess
- Seen in children who present with fever, dysphagia/odonophagia, drooling, neck stiffness, muffled voice, truisms (inability to open
mouth completely)
- Lateral Neck XR shows widened prevertabreal space and inability to extend neck.
- In patient with no Resp compromise, CT with contrast is performed to confirm presence and size of abscess.
- Most patients with RPA have pre-existing URI.
- RPA results from direct spread of bacterial infection from pharyngitis, tonsillitis, OM, or sinusitis. This abscess is usually
polymicrobial - involving Strep. pyogenes, Staph. aureus and anaerobes.

Neonatal Polycythemia
- Hematocrit of > 65% in term neonates
- CC = delayed clamping of Umbilical cord resulting in excess transfer of placental blood. Other factors are: in-utero hypoxia (maternal
smoking, HTN) or poor placental gas exchange (maternal DM)
- Sx = asymptomatic but ruddy/plethoric. As Hct increases, blood viscosity increases and impairs blood flow to various organs. MC Sx
is lethargy, irritability, jitteriness, resp distress, tachypnea, cyanosis, poor feeding.
- Increase RBC mass lead to hypoglycemia and hypocalcemia due to increased cellular uptake.
- Tx = Asymp. infants require hydration only by feeding or parenteral fluids. Sx. neonates require partial exchange transfusion in which
blood is removed and in exchange for normal saline to normalize the Hct.
P = 6hr old baby with RD, 39 wk. Mom has pre-eclampsia which led to poor placental function - causing IUGR and Polycythemia. Hct
was 69. He was plethoric, mild cyanosis of lips and tongue
Vaginal Foreign Body
- CC of Vulvovaginitis in pre-pubertal children ~ toilet paper is the MC vaginal foreign body
- Sx = foul smelling vaginal discharge, intermittent vaginal bleeding and spotting, urinary complaints.
- Perform external exam of genitalia in frog-leg or knee-to-chest position to minimize discomfort.
- Depending on child and size of foreign body, sedation or anesthesia may be required.
- Small bodies can easily be removed by Irrigation with warm fluid after a topical anesthetic.
P = 4 y girl, foul smelling vaginal discharge no fever/abd pain, whitish foreign body is seen on exam. Next Step? Irrigation w warm fluid
Infantile Colic
- Excessive crying for > or = 3 hrs a day or > or = 3 days a week over a period of > or = 3 weeks in an otherwise healthy infant.
- Presents in first few weeks of life and resolves spontaneously by age 4 months.
- Parents report frustration with consoling the infant.
- Calming Techniques = infant swing, swaddling, quiet dark room (minimizing stimuli), holding, rocking baby.
DMD
- MC Muscular Dystrophy in children
- Presents at age 2-5 with bilateral calf pseudo hypertrophy and Gower Sign
- Gower Sign = using hands to push legs to stand, thigh atrophy, calf pseudo-hypertrophy
- It is X-linked Recessive (similar sx are seen in maternal uncle)
- Gold Standard for Diagnosis = Genetic Testing that shows deletion of Dystrophin gene on Xp21
Thymus
- Normally visible on CXR in children ages < 3 years
- Located in anterior mediastinum (behind sternum and in front of the heart, aortic arch, trachea)
- Appears prominent on infants X-Ray due to its relatively large size compared to the infants small thorax
- Recognized as sail sign on frontal view because of its triangular shape
Thymus is an important organ during in utero and infancy/childhood for Lymphocyte production and maturation.
- Its absence of on Neonatal X-Ray suggest Thymic Hypoplasia or Aplasia (DiGeorge Syndrome)
- Thymus normally atrophies and is replaced by fat after puberty when it has completed production of T cells
- Residual thymic tissue can undergo malignant transformation into Thymoma which can be seen in MG patient
Non-accidental Trauma
- History = Vague or changing details; injury inconsistent with childs developmental stage; Sibling described as responsible
- Exam = Injury inconsistent with history; Multiple fractures or bruises in diff. healing stages; Cigarette burn; Bruises; Injury to genitalia
- Caregiver behavior = Argumentative or violent; Lack of emotional interaction with child; Inappropriate response to childs injury and
delay in seeking medical care.
Shaken Baby Syndrome
- Repetitive acceleration-deceleration forces causes shearing of Dural Veins and coup-countercoup injury with brain impact on skull
- Subdural bleeding can manifest as Seizures, Increasing head circumference, bulging anterior fontanelle, Altered mental status
- Shaking also causes Retinal hemorrhages - pathognomic finding for abusive head trauma
Management = Head CT to evaluate IC injury and skeletal survey to identify other injuries. Hospitalize to ensure child safety. Notify
child protective surface immediately
Brutons (X-linked) Agammaglobulinemia
- It is an X-linked recessive disorder characterized by defect in tyrosine kinase in B cells
- Presents = Male infant who is asymptomatic until 6-9 months of age, after which he experiences recurrent pyogenic (S. pneuma and
H. Influenza) infections.
- Maternal IgG Ab are responsible for keeping the infant free from infections in first 6-9 months of life.
- Dx = decrease serum concentration of IgG, IgA, IgM and IgE along with absent or decrease B cells on smear.

Tetanus
- Caused by Clostridium tetani which produces tetanospasmin - which causes muscle spasms and hypertonicity
- Neonatal Tetanus =>
- Seen in infants born to unionized mothers, frequent following umbilical stump infection due to poor obstetric procedure,
inadequate postnatal care, or cultural practices (application of cow dung or soil on umbilical stump)
- It occurs within first 2 weeks of birth - characterized by poor suckling, fatigue, rigidity and spasm.
- Mortality is very high due to Apnea (in 1st week of life) and septicemia (in 2nd week of life) secondary to infection that originated
at umbilical stump.
- Preventative measure = Maternal vaccination, promoting hospital delivery, train non-medical birth attendants and clean-cordhandling.
Infant development progresses from Cephalic to Caudal; from proximal to distal
Any neonate who has delayed passage of meconium (as 99% of infants stool within 48hrs after birth) ~ think of:
- Meconium Ileus = level of obstruction is ileum = Meconium is normal
- Hirschsprung Disease = level of obstruction is Rectosigmoid = Meconium is inspissated
Meconium Ileus
- Earliest life-threatening manifestation of CF
- It is diagnostic for CF
- It occurs due to mutation in the CF transmembrane conductance regulator gene resulting in abnormal chloride and sodium transport
and resultant tenacious secretion in multiple organs.
- Meconium is as thick as glue and is difficult to propel resulting in obstruction of ileum and a narrow underused colon (microcolon).
- Contrast Enema is performed to assess level of bowel obstruction, Free Air above the liver is indicative of intestinal perforation and
require emergency surgery
- Discovery of inspissated meconium should prompt sweat chloride testing to confirm the diagnosis of CF
- All patients of CF develop sinopulmonary disease - opacification of all sinuses can be seen as early as 8 months. Chronic lung
infection and recurrent pneumonia can lead to bronchiectasis. Because of frequent treatment with Aminoglycosides for Gramnegative infections (Pseudomonas), some patients develop sensorineural hearing loss
Todds Paralysis
- Sudden loss of consciousness with following disorientation and slow gain of consciousness is characteristic of seizure (if convulsive
episode was missed)
- Postictal Paralysis (Todd Paralysis) follows generalized as well as Focal seizures. Motor deficit improves rapidly with restoration of
function within 24 hr.
P = 6 yr old CC hemiplegia (R arm/leg). He was found unconscious by slowly gained consciousness. Motor function restored in 24hr
VSD
- Holosystolic Murmur at LSB is characteristic of VSD
- VSD is most common cause of Congenital Heart Disease.
- Presence of a harsh loud murmur and a normal ECG and absence of symptoms (tachycardia, tachypnea, FTT) make a small VSD
more likely
- Echo should be performed to determine the location and size of defect and to r/o other defect
- L-R shunt volume through a small VSD remains low. Small VSDs close spontaneously. On the other hand, larger defect often present
with a softer murmur due to less turbulence across a larger defect.
Congenital Hypothyroidism
- MCC is Thyroid dysgenesis (Aplasia, Hypoplasia or Ectopic glands)
- Other causes are inborn errors of Thyroxine synthesis and transplacental maternal thyrotropin-receptor blocking antibodies.
- Sx = infants have apathy, weakness, hypotonia, large tongue, sluggish movement, abdominal bloating, umbilical hernia
- Infants initially appear normal due to moderate amount of maternal hormones in infants circulation. For this reason screening is
mandated in all states at birth to allow for Early Detection, Tx and improvement of prognosis
- Screening is done by measuring serum T4 and TSH levels.
- Tx = Levothyroxine (initial dose of 10 mcg/kg then titrated accordingly)
WPW
- Characterized by accessory pathway between the Atrium and Ventricle resulting in pre-excitation and increased risk for
Tachyarrhythmias. Accessory pathway conducts anterograde from Atria to Ventricle faster than conduction through AV node. This
results in shorter PR interval, slurred portion of QRS (delta wave) and a wide QRS complex
- WPW is seen in healthy children or adolescent
- Affected patients can either be asymptomatic or present with chest pain/palpitations/syncope

Rubella (German Measles)

- First trimester infection = can lead to spontaneous abortion and Congenital Rubella Syndrome
- Triad of leukocoria (white pupillary reflex) from cataract, murmur of PDA and Hearing loss
Clinical Presentation
- Congenital Rubella = Sensorineural hearing loss, Intellectual Disability, Cataract, Cardiac Abnormality
- Children = Fever, Conjunctivitis, Coryza, Cervical LAD, Forshhemier spots, Cephalocaudal spread of blanching
- Adults = Same as children + arthralgia/arthritis
- Dx = PCR; Serology for anti-rubella IgM and IgG
- Prevention = Live attenuated Rubella Vaccines
- Tx = Supportive care
Infant Nutrition
- 0-6 months = Exclusive breastfeed
- At 6 months introduce pureed foods
- At 1 year introduce cows milk
Fe-def anemia risk factors:
- Presence of maternal iron deficiency
- Prematurity
- Early introduction of cows milk before age 12 months
Human BM contains only small amount of VitD inadequate for infants daily requirement. All exclusive breastfed infants should be
started on 400 IUD daily within 1st months of life.
If the infant was born prematurely and is exclusively breastfed she is at significantly increased risk of Fe def anemia and both Fe and
VitD should be initiated.
Continue Fe supplementation until the age of 1 year in preterm infants
SLE
- Confirmatory Test = Anti-Smith Antibody test and Anti-dsDNA test
- SLE is also associated with false positive RPR (Rapid Plasma Reagin) - used to test syphilis. FTA (Fluorescent Treponema Antibody
Test) is more specific for diagnosis of syphilis
ADHD
- > or = 6 inattentive or hyperactive symptoms for > or = 6 months
- Symptoms occur at least in 2 settings - home, school, peer relations
- Several symptoms before age 12
- Inattention Sx = no attention to detail, careless mistakes, difficulty focusing, Do not listen when spoken to, cannot follow instructions,
gets sidetracked, disorganized work, poor time management, loses/misplace objects, distracted easily by extraneous stimuli
- Hyperactivity Sx = fidgets, difficulty staying seated, physically active all the time
Teacher evaluation are necessary to establish the presence or absence of symptom in more than one setting (school and home).
Full Term Newborn
- They have dry flaky skin of hands and feet b/c skin adjusts to dry extrauterine environment
- Pink stains or brick dust on neonatal diapers are Uric Acid Crystals - UA excretion is high at birth and decreases until adolescence
- Healthy neonates lose up to 7% of their birth weight in first 5 days of life due to excretion of excess fluid acquired in utero or labor
- Signs of Dehydration = dry mucous membrane, sunken fontanelle
Neonatal Dehydration Evaluation
- Decrease wet diapers
- Absence of tears
- Sunken fontanelle
- Dry mucous membrane
- Decrease skin turgor
- Delay capillary refill
Management of Weight loss
- < 7% = continue exclusive Breastfeed, follow up 10-14 days
- > 7% = Assess for morocco dysfunction, Assess for lactation failure, Daily Weights, Formula supplementation
Note = # of Wet Diapers should be = age in day for 1st week of life E.g. 4 day old should have 4 or more wet diapers per day.
After 1st week, infants should have > or = 6 wet diapers / day.
Birth weight should be regained by age 10-14 days

2 y/o keeps to himself, takes off clothes that are not soft enough, indifferent to others, refuses to make eye contact, disinterested in his
toys, bangs head against the wall?
- Autistic kid
Esophageal Atresia and Tracheoesophageal Fistual
- Esophageal Atresia with distal fistula is most common. It should be suspected when new born chokes and coughs during first feeding
- Any attempt to put nasogastric tube will fail and it will appear coiled on X-Ray
- There will also be Hx of Polyhydraminos since baby is unable to swallow amniotic fluid
- Sx = choking, coughing, drooling, regurgitation with initial feed
- Gastric fluid can also reflux in lung (via trachea) causing Aspiration Pneumonia - so crackles and X-Ray infiltrates are seen.
- Workup pt for VACTERL anomalies.
Baby has easy bruisability with elevated PT time. He was born at home and mom didnt receive any prenatal care.
- Perinatal Care involves Vitamin-K injections after delivery. This baby didnt get those so he had Vit-K dependent bleeding ~ this can
develop in 1st week of life
- Def. of Vit K in new born results from poor placental transfer, absent gut flora etc. so they need Vit K shot after delivery.
- Bleeding occurs b/c of def og Vit K Dependant clotthing factors - 2, 7, 9 and 10
- Sx = bruising, bloody stools, IC hemorrhage
- It causes prolonged PT
- Dx is confirmed by administeration of Vit K shots which resolves the symptoms
DOC for Absence Seizure?
- Ethosuximide ~ SE = nausea, vomiting, hyperactivity etc.
- Valproic Acid
8 y/o comes in with 6 day fever (103), injected conjunctiva, rash across face/trunk/extremities. PMHx of being treated with Amoxicillin
for Strep throat (distractor).
Kawasaki Disease
- Fever of 5 days or more in children age < 5
- Also has b/l non-exudative conjunctivitis, injected lips, strawberry tongue, injected pharynx, Cervical LAD, Erythematous Rash
- Tx = ASA + IVIg
- Complications = Coronary Artery Aneurysms, MI, Ischemia - perform baseline Echo in all patient suspected of KD
UTI
- Should be dx and tx promptly b/c it could become pyelonephritis
- Risk Factor = Short urethra in girls, Uncircumcised penis in boys, Renal problems in both (VUR, PUV)
- Sx = Fever, fussiness, decrease wet diapers/Urine output, (Fever > 39/102.2 in child < 3 is def. UTI eval)
- Labs = UA, Urine culture, do Straight Cath of urethra in infants/toddlers to obtain sterile urine speciemen. (Mid stream clean catch
urine sample are unreliable in diapered pt due to contamination by stool or skin flora)
Mullerian Agenesis
- It affects 46XX females - failure of Mullein system to differentiate into Uterus, Cervix and Upper vagina
- Ovaries, Labia, Clitoris (gonads and external genitalia) develop normally.
- Breast development and body hair is also normal.
5-alpha Reductase def
- They cannot convert Testosterone to more potent DHT
- Affects 46 XY they have male internal genitalia and female/undermasculanized external genitalia
- At Puberty, they experience masculinization due to testosterone but lack breast development
AIS
- Affects 46 XY - they have a defective Androgen receptor which results in resistance to androgens.
- They have testicular secretion of Anti-Mullerian Hormone which results in male genitalia
- Testicular testosterone is converted to estrogen causing Breast development
Flexing Hip with neck flexion, drowsy, lethargic, petechial rashe, fever = Neisseria Meningitis
- MCC of bacterial meningitis in children and young adult
Friedreich Ataxia
- Autosomal Recessive = Sx begins before age 22
- Sx = Gait ataxia, frequent falling, dysarthria from degeneration of Spinocerebellar tracts, Posterior Column, Pyramidal tract
- Other Sx = Concentric HOCM, DM, Hammer toes, Scoliosis
High Grade fever + Leukopenia, thrombocytopenia in a 6 y/o with macula-papular rash on face> trunk/UE = Measles infection
- Vitamin A = reduces morbidity and mortality of measles patient through immune enhancement

Edward Syndrome
- Trisomy 18 (E = Election age is 18)
- Sx = Micrognathia, Microcephaly, Rocker bottom feet, Overlapping fingers, absent palmar creases
- VSD is MC in them
Chemical Conjunctivitis = < 24 hr = Conjunctival injection and tearing after Silver Nitrate drops prophylaxis; Tx = Eye lubricant
Gonococcal Conjunc = 2-5 DOL = Purulent discharge from eye = IV or IM Ceftriaxone or Cefotaxime
Chlamydia Conjunc = 5-14 DOL = Watery/bloody mucopurulent discharge = Oral Eryhtromycine
- CDC says all pregnant women must be screened for Chlamydia @ first prenatal visit. Repeat Maternal Screening in 3rd trimester in
high risk women (age < 25, multiple sex partner). Tx of maternal chlamydia prevents Chlamydia cojunct. in kid
Baby born with low-set ears, micrognathia, cleft palate, truncus arteriosus = Di George
- Chromosome 22q deletion - defective development of pharyngeal pouches.
- CATCH-22 = Conotruncal Cardiac defect, Abnormal facies, Thymic hypoplasia, Cleft palate, Hypocalcemia
- Once Dx is done = order Serum Ca2+ levels and Echo ASAP !
- Hypocalcemia results from hypoplasia of parathyroid glands
- Neonates are at risk of tetany, seizures, arrhythmia = they need aggressive Ca2+ repletion.
- Truncus Arteriosus = strongly associated with DiGeorge
- Depending on degree of Thymic Hypoplasia, patient can have T-cell Lymphopenia - so give them only killed or subcomponent
vaccines (b/c they have defective immune). Live vaccines arent very safe for them
Live Vaccines - MMR, Intranasal Influenza, Rotavirus, Oral Polio virus
Child with CHD, Recurrent sinusitis/pneumonia, seiures = Brain Abscess
- Presents with Fever, headache (nocturnal or morning), Neuro defects, seizures.
- Pt have Hx of Cyanotic CHD & recurrent sinusitis/pneumonia. Bacteria can spread from sinuses into frontal lobe etc.
- Do brain imaging/CT/MRI as next step for diagnosis
Trachoma
- Caused by Chlamydia trachomatis A-C
- Major cause of blindness world wide
- Presents with follicles and inflammatory changes in conjunctiva. Cornea shows panes (neovascularization)
- Dx = Giemsa staining of conjuctival scraping.
- Tx = Topical tetracycline or Oral Azithromycine
- Repeated infection leads to scarring of cornea
Child with Cough, forceful coughing triggers post-tussive emesis which lead to weight loss, Sx worse with exercise, exposure to steam
to smoke (shower), laughing. = Bordatella Pertussis
- Infants age < 6 months are at high risk of apnea and death
- Lab = initial labs are normal but pt can develop Lymphocytosis.
- Tx = Macrolides (Azithro, Erythro, Clarithomycin) reduce Sx and Severity
- OTC anti-tussive should be avoided due to lack of proven efficacy
Abdominal Pain, bloody diarrhea in kid with 2+ pedal edema, Labs show anemia, thrombocytopenia, renal insufficiency
- HUS sec. to EHEC
- E Coli destroys colonic epithelium lining
- HUS triad = Uremia, Thrombocytopenia, Hemolytic Anemua.
Midgut Volvulus
- Primary predisposing factor = Malrotation of Midgut in early fetal development
- Neonate presents with Bilious vomiting, soft abdomen, ischemia os twisted bowel can cause bloody stools,.
- If there are signs of Ischemia to systemic decompensation (shock) = do emergency Laparotomy
- Dx = Upper GI series (barium swallow) - finding of the Ligament of Treitz on R side of abdomen reflects malrotation while constrast in
corkscrew pattern indicates volvulus
Alpha and Beta Thalassemia minor (trait)
- Asymptomatic
- Found incidentally on 1 year old being tested for anemia.
- No treatment
- MCV is low, MCV/RBC < 13 (Mentzer index), Target cells are seen
5 y/o talks to herself when alone, when asked who she is talking to , she says no body,
- Children b/w age 2-6 develop imaginary friends in response to stress. They abandon this behavior in first few years of elementary
school. Nothing to worry about

Common cause of Nephrotic Syndrome:

- Minimal Change Disease in Children (pre-adolescent child)
- FSGS and Memebranous Nephropathy in adolescent and adults
Membranous Nephropathy
- Ass. with HepB infection
- Hep B vaccination reduced Hep-B virus associated Membranous Nephropathy
- Screen all unvaccinated immigrated children for Hep B
- HBVMN involve deposition of HBeAg or its Antibody in the glomeruli
- Other workup = 24 hr urine, Serum C3, ANA, Renal biopsy
FSGS = Ass. with HIV
Herpangina
- Caused by Coxsackie A virus.
- It is seasonal and infection mostly occur during summer/early fall
- Presents as 1mm gray vesicles on the tonsils pillars and posterior oropharynx that progress to fibrin-coated ulcerations.
- It can be accompanied by Hand-foot-mouth disease
- Tx = Supportive, pain control
IgA Deficiency
- IgA provides mucosal barrier protection
- Patient presents with mild immunodef consisting of:
- Recurrent Sinopulmonary (Strep/Hemophilus) and GI infection (Giardia ~ diarrhea)
- These patients also form Antibodies to IgA leading to Anaphylactic transfusion reaction.
- Dx = Measure serum IgA levels which would be low
Transient Proteinuria
- MCC of Isolated proteinuria in children
- It is caused by fever, exercise, seizure, stress.
- It should be re-evaluated with a repeated Urine dipstick testing on 2 separate occasion to r/o Persistent proteinuria
Vit A def
- Photophobia, dry scaly skin, dry conjunctiva, dry cornea, cloudy cornea, follicular hyperkeratosis of shoulders
Strabismus
- It is intermittent or constant ocular misalignment due to nasal deviation (estropia) or temporal deviation (exotropia)
- Exam Findings = Asymmetric red reflexes or corneal light reflexes; deviation during cove er test
- Cover Test = ask child to fix the gaze on target as examiner covers one eye while observing movement of the other. Normal eye
keeps the same position and does not move, a misaligned eye shifts to re-fixate on the object when normal eye is covered.
- Strabismus can be expected in infants age < 4 months due to immaturity of EOM.
- Strabismus > 4 months is abnormal and requires tx to prevent Amblyopia (vision loss).
- Tx = prescription for glasses, deviated eye can be strengthened by patching the normal eye (occlusion therapy) OR blurring the
vision of normal eye with cyclopegic drops (penalization therapy)
Sickle Cell Anemia
- In Homozygous SCD, sickle cells clump together leading to micro0infarction in parts of the body. Spleen has slow blood flow which
causes splenic sequestration of RBCs = leading to Splenic Infarct.
- Spleen is the sire of removal of Encapsulated organisms and patient with functional asplenia are at risk of developing encapsulated
organisms infections = Strep pneumonia (pneumococcus), HIb, N. Meningitis, Salmonella.
- Pneumococcus is the MCC of sepsis in this population.
- Tx = Vaccination and Penicillin prophylaxis are extremely important infection prevention measure.
- All patient with SCA receive 13 and 23 talent pneumococcus vaccine

Howell-Jolly bodies
- These are nuclear remnants of RBC which are removed by functional spleen (Their presence suggest splenectomy or functional
asplenia). They are seen on peripheral smears
- Seen in Sickle Cell Patients who have infarcted spleens caused by repeated micro infarctions from clumping of sickle cells
Heinz Bodies = seen in G6PD def and thalassemia. It is an aggregate of denatured Hgb. When phagocyte extract this rigid precipitate,
they form Bite Cells
Cyclic Vomiting Syndrome
- Recurrent predictable pattern of frequent vomiting that resolves spontaneously with no symptoms.
- Patients growth, eating pattern, labs all are normal
- There is a Family Hx of Migraines
- Tx = Hydration, anti-emetics (ondansetron), anti-migrain therapy
Nocturnal Vulvar itching in 5 y/o w/o any discharge? Think Pinworms
- Vulvovaginitis in prepubertal child can be caused by infections, lack of labia development, poor hygiene, etc.
- If there is a contact with other child of similar symptoms - think of pinworm infection.
- Pinworm infection is common in school aged children - presents with nocturnal anal pruritic and vulvovaginitis in prepubertal females
- Dx = Scotch tape test
- Tx = Mebendazole
Fragile X Syndrome
- Males have large head, long face, prominent forehead and chin, protruding ears, large testes
- Sx = Hyperactivity, short attention span, autism, low iQ ~ 50, Mental retardation
- It is caused by mutation in FMR1 gene which causes increase in CGG trinucleotide repeat
Normal Pt = 100% HgbA
SCD = 0% HgbA, 85% HgbS 15% HgbF
SCT = 60% HgbA 45% HgbS 2% HgbF
SCD = autosomal recessive. When both parents have trait, child is at risk of inheriting the disease
People with SCT are asymptomatic and lead a healthy life. But they are at increased risk of:
- Renal issues - MC is painless Hematuria that result from sickling in renal medulla
- Isothenuria (impairment in concentrating ability) - present as nocturne and polyuria
- Increased risk of UTI during pregnancy
Marfan Syndrome
- Autosomal Dominant - Fibrillin-1 gene mutation
- Sx = joint hyper mobility, arachnodactyly, pectus excavatum, scoliosis/kyphosis. Fave is long, palate has a high arch. There is also
Upward Lens Dislocation (ectopic lentils),
- Most life threatening finding in Marfan = Aortic Root Dilation ~ diastolic murmur is Aortic Regurgitation. . This
- Marfan Syndrome requires close monitoring with Echo for development of Aneurysms and Aortic Arch Dissection.
- Mitral Valve Prolapse is also common and presents as Mid-systolic click
- 1st degree relatives should undergo genetic testing
Vascular Ring or Sling
- Inspiratory stridor in infant < 6 months that improves with neck extension
- Vascular Rings result from abnormal development of Aortic arch causing tracheal compression. They are either complete or
incomplete.
- Pt presentation = < 1 year old with Resp. or Esophageal symptoms - stridor, wheezing, cough, dysphagia Stridor improves with neck
extension.
- Giving Racemic Epi or bronchodilators does not improve symptoms.
- Dx = Barium contrast Esophagogram, bronchosopy, CT or MRA
- Tx = Surgery
Congenital Diaphragmatic Hernia
- Abdominal Viscera herniate into chest resulting in Pulmonary Hypoplasia and Pulmonary HTN
- 85% of the cases occurs on Left side because Liver is on Right
- Polyhydraminos occur as a result of esophageal compression.
- Abdominal viscera goes into thorax which causes scaphoid/concave abdomen and barrel-shaped chest.
- Bowel displaces left lung so there is absent left breath sounds.
- Heart deviates to right and impairs right lung development - RS hear sounds and R lung aeration.
- Emergency Intubation = b/c patient has RD and hypoxia.
- UA line should be placed for close monitoring of blood gases. UV catheter for fluid admin.

G6P (Glucose-6-Phosphatase) deficiency

- Type 1 Glycogen Storage Disease and Von-Gierkes Disease
- Caused by def. of G6P in liver and kidneys
- Sx = 3-4 month old with hypoglycemia, Lactic acidosis, Hyperuricemia, Hyperlipidemia.
- Hypoglycemic seizures can occirs.
- Baby has a doll-like face (fat cheek), think extremity, short stature, protuberant abdomen (b/c of large kidney & liver)
Pompes Disease
- Acid Maltase deficiency
- Pt presents with Hepatomegaly, floppy baby with diff feeding, macroglossia, Heart Failure sec to HCOM
Orbital Cellulitis vs Perioribital Cellulitis
- Both have = Eyelid erythema, tenderness, fever, leukocytosis
- Periorbital Cellulitis = infection of eyelid anterior to the orbital septum.
- Orbital Cellulitis = infection of eyelid posterior to the orbital septum.
- MC cause by = Staph aureus, Strep. pneumo,
- Only Orbital Cellulitis have = Opthalmoplegia, Pain with EOM, Proptosis, Vision impairment
Lesch-Nyhan Syndrome
- X-linked recessive (all victims are male) - def of Hypoxanthine-Guanine Phosphoribosyl transferase (HPRT) - enzyme invlves in
purine metabolism. Def. causes increase level of Uric Acid and its accumulation in tissues.
- Pt presents = 6 month old with hypotonia, vomiting Self-mutilation (biting of UE), dystonia, choreoathetosis
- There is also gouty arthritis, tophus formation
- Tx = Allopurinol to reduce UA levels; drinking lots of fluid
Neuroblastoma
- MC extracranial tumor of childhood
- Arises from Neural Crest Cells - thats why it arises in adrenal glands or sympathetic chain
- Calcification and hemorrhages are seen on plain X-Ray and CT scan
- Serum and Urine Catecholamines and their metabolites (HVA and VMA) are elevated.
Nursemaids Elbow
- Presents as Arm held Extended and Pronated
- Tx = Supination and flexion OR Hyperpronation of forearm
Strokes (sudden onset of diff walking) in Children are uncommon but if they happen its due to:
- Sickle Cell Anemia - seen in AA, Hx of dactylitis, prior pain crisis. It occurs because RBC adherence to the endothelium, activation of
vWF and Hyperviscosity of blood contributes to it. So to dx = get a peripheral smear and Retic count.

Alport Syndrome
- Presents in childhood with Gross Hematuria and Proteinuria + Sensorineural deafness.
- EM shows areas of thinned and thickened capillary loops with Splitting of GBM
5 y/o refuses to talk, answer question, speak to others, smile, play with other kids in class. But mom says at home she is talkative, plays
happily, etc. She is also a little shy
- Selective Mutism
- Consistent failure to speak in some specific situations - home, school etc.
- Duration is > or = 1 month
Know Enzyme Deficiency 11,21, 17 in MTB
Foreign Body Aspiration
- They usually go in Right Main stem bronchi e.g. peanuts tec.
- Sx = Hx of choking, sudden onset RDS, cyanosis,
- PE = Focal monophonic wheezing & affected aeration on affected side
- XR = Hyperinflation or atelactasis of affected side
- Tx = remove it via bronchoscopy
Impetigo
- Typically caused by Staph. aureus or Strep Pyogenes (Grp A)
- Risk factor = warm humid climate, poverty, poor personal hygiene, insect-bite/skin trauma
- Presents as painful pustules that become golden-yellow honey crusted.
- Tx = Mupirocin (topical) for non-bullous ones
- Oral Clindamycin, cephalexin, dicloxacillin for bullous ones
In Peds patients, Infratentorial Tumors are more common than Supratentorial tumors
- Astrocytoma = MC type for both supra and infra groups. Presents with seizure, headaches, space occupying lesion in parietal lobe
Medulloblastoma = 2nd MCC tumor of Posterior fossa in children - occurs in vermis
Vaccinations for medically stable preterm infants is safe and should be administered y chronological age and NOT gestational age.
- Vaccination of premature infants is safe and antibody production is adequate to confer immunity.
- So all stable pre-term infants should receive the 1st dose of Hep B vaccine at birth (unless infant weighs < 2 kg)
Waterhouse-Friedrichsen Syndrome
- Sudden vasomotor collapse and skin rash (purpuric lesions on flank) due to Adrenal Hemorrhage
- It is usually present after meningiococcemia
Kid presents with fever, hypothermia, nuchal rigidity, purpuric lesion - sudden hypotension
VSD can present as FTT, easy fatiguability and Heart failure. Patient has a pansystolic/holosystolic murmur that is loudest at LSB and
Diastolic rumble at the apex due to increase flow across Mitral Valve
S1I IIIIIIIIIII IS2 _______S1
Live Vaccines = Rotavirus, MMR, Varicella, Intranasal Influenza
Inactivated Killed = Polio and Hep A
Toxoid - inactivated toxin = Diptheria and Tetanus
Measles
- Most contagious virus outbreak among unvaccinated people
- Spread through = Resp. droplets - patient can spread dz 5 days before the appearance of rash and 4 days after rash resolves
- Present with non-exudative conjunctivitis, maculopapular rash covers face/spares palms and soles, Koplik spots (white lesions on
buck mucosa)
- Dx = PCR - anti0measles IgM and IgG
- Prevention = Live Attenuated Measles Vaccine
- Tx = Supportive care and Vit A
Enter the patient room with negative air pressure and N95 facemark with a tight seal over nose and mouth
SCA
- MCC is Chronic Hemolysis - leads to high RBC turnover and anemia. Hemolysis specially occurs in spleen and bone marrow.
- RBC has a short life of 20 days - results in elevated LDH (lactate dehydrogenase) and UCB and increase reticulocyte count.
- Excess Hgb (from hemolysis) binds to haptoglobin resulting in Low/Absent Serum Haptoglobin
- Accumulation of RBC in spleen causes splenomegaly and acute anemia occurs leading to fatigue and hypotension

Granulosa Cell Tumor (Ovarian Cell Tumor)

- Has a bimodal distribution.
- Tumor produces excess Estrogen and causes isosexual precocious puberty.
- If occur before puberty = causes precocious puberty - big breast, pubic growth, hyperplasia of uterus
- If occur in postmenopausal women = postmenopausal bleeding and uterus shows myohyperplasia.
Sertoli-Leydig Tumor = produces androgens and cause defeminization followed by masculinization. Breast flattening, amenorrhea,
hirsutism, coarse features, enlarged clit
Bordatella Pertussis
- Recommended first line Tx = Macrolide
- Immunization can prevent 90% of the cases
- If still has Pertussis, give Abx to all household contacts as Prophylaxis = Macrolide
Age < 1 month = Azithromycine x 5 days
Age > or = 1 month = Azithro x 5 days OR Clarithro x 7 days OR Erythro x 14 days
Lytic Bone lesion in child could be:
- Brodie abscess from Osteomyeltis
- Hyperparathyroid Osteitis fibrosa cystica
- Ewing Sarcoma, Langerhan cell Histiocytosis
But Solitary, Painful, lytic long bone lesion with swelling and Hypercalcemia = Langerhan cell histiocytosis
MCC of Acute Bacterial Rhinosinusitis
- Strep pneumo - 30%
- Hemophilus Influenza - 30%
- Moraxella Catarrhalis - 10%
- DOC Tx = Amoxicillin-Clavulanic Acid (Augmentin) (due to increasing B lactase resistance)
10 y/o has a sudden-onset Right Hemiplegia. A day ago he got pencil stuck in his roof of the mouth. What caused R hemiplegia?
- Internal Carotid Artery Dissection
- Acute Stroke syndrome after a Foreign body injury to soft palate which may have caused Internal Carotid Artery dissection.
- The onset of Stroke Sx can be delayed up tp 24 hr after trauma
- Confirm the Sx with MRI/MRA of the brain
Choanal Atresia
- Suspected in newborn with cyanosis that is aggravated by feeding and relieved by crying
- It is caused by failure of posterior nasal passage to canalize completely leaving either boner membranous obstruction.
- It can be a part of CHARGE Syndrome = Coloboma, Heart defect, Atresia of choanae, Renal anomalies, Growth impairment, Ear
deafness/abnormality
- If b/l obstruction = Cyclic cyanosis that worsens when infants cannot breath through during feeding but recovers during crying
- Unilareal choanal atresia = remain undiagnosed until infant develops URI
- Dx = Failure to pass catheter through nose - CT shows narrowing at pterygoid plate in posterior nasal cavity
Note = Cyanosis here is not triggered by stress but by anything that keeps infants mouth closed (feeding)
Congenital Syphilis
- Contracted through transplacental transmission of T. palladium
- Sx = cutaneous lesions on palm and soles, jaundice, anemia, rhinorrhea (snuffles)
- Radiograph = metaphyseal dystrophy and periostitis
- Late manifestation = Frontal bossing, high arched palate, Hutchinson teeth, Saddle nose, Perioral fissures.
- Dx = VDRL and RPR - screening. FTA-ABS is confirmatory
- Tx = Penicillin G
Toddlers = Explore their own or others genitalia, masturbatory movement, undress themselves or others
School-age = interested in sex word and play, ask about sex and reproduction, masturbatory movement
- Abnormal = insertion of object in anus or vagina, genital-genital/oral/anal contact, use of force/threats/bribes in sex play, ageappropriate sex knowledge
Fetal Alcohol Syndrome
- Pregnant women should abstain completely from alcohol as there is NO KNOWN safe amount of prenatal alcohol consumption
- It causes 3 facial dysmorphisms = Small Palpebral Fissures; Smooth philtrum, Thin vermillion border
- Also, growth is compromised - < 10th percentile for age
- Microcephaly is seen - they suffer from behavioral disorders - ADHD, Social withdrawal, delayed motor and language milestones.

Minimal Change Disease

- MCC of Nephrotic Syndrome in < 10 y/o
- Affected children have significant edema and proteinuria - edema can be periorbital in the morning and more pronounced in legs
- Dx = 24 hr urine collection
- Tx = Steroid therapy - prednisone
Tourette Syndrome
- More frequent in males
- Multiple motor and one or more vocal tics present before 18 yr of age
- Motor Tics - grimacing, eye blinking, nose twitching, head jerking, shoulder shrugging,
- Vocal Tics = barking, grunting, squeaking, coughing, throat clearing.
- Pt with Tourettes have a sig increased risk of developing ADHD (60%) and OCD (27%)
Biliary Cyst (Choledochal cyst)
- Congenital dilation of biliary tree - MC type is Type 1 = single extra hepatic cyst
- Sx = abdominal pain, obstructive jaundice, palpable mass. ~ Seen in < 10 y/o
- Older children may have pancreatitis
- Dx = U/S, ERCP
- Biliary Cyst can transform into cholangiocarcinoma
- Tx = Surgical resection
B1 (Thiamine) def = Beriberi (peripheral neuropathy), Wernicke-Korsakoff Syndrome
B2 (Riboflavin) def = Cheilosis, stomatitis, glossitis
B3 (Niacin) def = Pellagra - Dermatitis, Diarrhea, Dementia, Death
B6 (Pyridoxine) def = irritability, confusion, depression, cheilosos/stomatitis
B9 (Folate) def = NTD, Megaloblastic anemia
B12 (cobalamin) def = Megaloblastic anemia, Confision/ataxia/paresthesia
C (ascorbic acid) def = Scurvy - punctate hemorrhage, gingivitis, corkscrew hair
Hypernatremia Sx = Lethargy, Altered mental status, irritability, Seizure
- Hypovolemic Hypernatremia = occurs sec. to renal loss (diuretic use) or extra-renal loss (sweating, GI upset). Tx = 0.9%NS
- Hypervolemic Hypernatermia = occurs due to expogenous Na+ intake or Aldosterone
Osteonecrosis
- seen in idiopathic avascular necrosis
TOF
- Placement of patient in knee-chest position during TET spell increases systemic vascular resistance