Morning Report

Johanna Viau

HPI
10

month old female CC: lethargy and fussiness Poor feeding x 3-4 months, worse in the last couple of days Vomiting x 3-4 months, NBNB, 3-4x per day Extremely irritable; not sleeping well, < 30 minutes then will wake up crying, inconsolable pain not sure where

Review of Systems
General:

months Resp: no URI symptoms, no shortness of breath CV: no sweating w feeds, no edema GI: no bowel movements x 2 weeks Neuro: fussiness, pain (?) Skin: paleness. No rashes.

5lb weight loss in the last 3

Past Medical History

Born full term 7lbs 8oz. No prenatal or neonatal complications. 3 admissions to OSH:

RSV bronchiolitis @ 3 months of age Viral pneumonia @ 6 months of age Dehydration + Hypokalemia, 1 week prior to this evaluation. Corrected w IVF, dcd after 48h

Immunizations up to date except for Hep B (FH of facial swelling) No surgeries. No meds. No allergies.

Dietary History

Currently exclusively breastfed but taking less every time. Good milk supply: able to pump ~4-6 oz but child does not take the milk from the bottle. Used to be interested in solids but not any more Tried fortifying feeds but refuses bottles. ~ 7 feeds per day but Mom does not think that she is sucking, its more for comfort

Needs to pump after each feed since her breasts are not empty

Occasionally chokes/gags on feeds

Family, Social and Exposure History

Married young couple. First child. Strong social support from extended family members. No obvious signs/symptoms of maternal depression. Family history negative for childhood illnesses, GI problems, autoimmune diseases, recurrent infections. No exposures to pets/wild animals, raw/undercooked/unpasteurized meats, diary or eggs, sick contacts, daycare.

Physical Exam

Wt: 7.5 kg (4th percentile) Ht 71 cm (34th percentile) Vital Signs: T 36.9, HR 132, RR 33, BP 107/82, Sats 99% on RA General: extremely fussy infant, not calmed by parents. Non ill-appearing. Moderate distress. Very thin, almost no subcutaneous fat. HEENT: normocephalic. Dry mucous membranes. No intraoral lesions. No teeth present. No cleft lip or palate. No stridor or signs of upper airway obstruction. CV/RESP: mild tachycardia, regular rhythm. No murmurs or gallops. Adequate air entry bilaterally. No wheezing, rales. No retractions.

Physical exam continued

ABD: soft, nontender, nondistended. palpable fecal mass confirmed by rectal. Hypoactive bowel sounds. No hepatosplenomegaly. NEURO: Very difficult to examine due to fussiness. alert and awake. Cranial nerves grossly intact (no facial, or tongue asymmetry, good gag). Tracks objects. Holds head up and sits without support. Normal tone. Normal reflexes. Skin: poor skin turgor. No rashes. No birthmarks. No jaundice.

Growth Chart

Development

On track until 9 months of age, then she stopped doing some of the things that she was doing. Language/communication

Cognitive

Moans no syllables, or words. (used to be able to vocalize a little better) Good eye contact No pointing at objects Looks around Not interested in looking for hidden objects or playing peek-a-boo

Motor

Social

Sits without support Used to roll over, crawl, stand and cruise but not anymore Grabs things but does not change objects from hand to hand Not feeding herself, not putting anything in her mouth.
Clingy with family members No smiling just crying!!!

Differential Diagnosis
10 month old with Failure to thrive, vomiting, developmental regression, and fussiness

Differential Diagnosis
CNS:
Developmental delay Hypotonia Immaturity

ORAL:

Suck-swallow dysfunction Poor feeding technique Cleft lip/palate Mouth ulcers Dental problems

HEME/IMMUNE:

UPPER GI:

Iron deficiency Immunodeficiencies Malignancies

Frequent vomiting GER/GERD Esophageal dysmotility Obstruction pyloric stenosis

PULM:

Upper airway obstruction Recurrent URIs /pneumonias Chronic lung disease (CF)

CARDS:

Congenital heart disease Chronic heart disease

RENAL/URO:

LOWER GI:

Chronic kidney disease Renal Tubular acidosis Frequent UTIs

ENDO/METAB:

Hypo/hyperthyroidism Diabetes Adrenal insufficiency Storage diseases Inborn errors

PSYCHOSOC/EDUC:

Inappropriate nutrient quantity or selection Disturbed infant/caregiver relationship Abuse

Constipation Obstruction / pseudoobstruction Chronic diarrhea Lactose intolerance Milk protein allergy Celiac disease Inflammatory bowel disease

Not getting enough in

Inappropriate nutrient quantity Decreased milk production Inadequate formula mixing Inappropriate nutrient selection Fruit juice Sugar water or plain water Solids (decreasing formula) Inappropriate feeding technique Suck Swallow dysfunction Immaturity CNS problems Neuromuscular Mechanical/anatomic feeding problems Cleft lip or palate Nasal obstruction Adenoidal hypertrophy Anorexia Frequent infections Chronic diseases Anemia Constipation and obstruction GERD - pain Disturbed infant/caregiver relationship

Loosing it or not able to use it

Chronic or recurrent Vomiting Severe GERD Pyloric stenosis Upper GI obstruction Chronic or recurrent diarrhea Lactose intolerance Milk protein allergy Celiac Disease Inflammatory bowel disease Cystic Fibrosis Biliary atresia, cirrhosis Metabolism problems Storage diseases Inborn errors Diabetes Mellitus Adrenal insufficiency Congenital adrenal hyperplasia Renal tubular acidosis

Requiring too much

Chronic heart disease Chronic pulmonary disease Malignancy Chronic or recurrent infections Chronic systemic diseases Rheumatologic Immunodeficiencies

Initial Workup

Objectives:

Is this really FTT?

< 3rd percentile for age OR crossing percentiles inadequate nutrient intake for the patients optimal growth and development

Genetics

Identify Etiologies:

most likely (based on hx/ROS/PE) most common most serious

Complications: dehydration, anemia, micronutrient deficiencies

Searching for the cause

History: feeding pattern, other symptoms (full ROS), family history Growth chart w OFCs Newborn screen Physical exam: dysmorphisms, skin findings, neurodevelopmental status, nutritional status, signs of other diseases Basic labs and imaging no consensus!

Feeding + weight trend observation in a controlled environment Lactation, OT/PT/speech, Social work

CBC w diff, CMP, UA, thyroid CXR, KUB

Growth Chart: OFC

Usually:

Abnormal neuro exam Normal Weight:length ratio

TORCH Teratology Genetic syndromes Brain injury

HIE, IVH

Growth Chart: Height

Preserved or increased weight to height ratio Stunting = decreased height for age Familial short stature Endocrinopathies

Genetic syndromes and TORCH infections not affecting brain

GH deficiencies Hypothyroidism Turners syndrome Hypercortisolism

Growth Chart: Weight

Wasting = decreased weight for height Poor Nutrition

Inadequate food offered Poor appetite or food refusal Oromotor dysfunction Calorie loss

Vomiting Malabsorption Increased needs (hypermetabolic)

Severe MalNutrition

Growth Chart

Our patients workup

CBC: WBC 10.9 (N18%, L70%, M10%), HGB 12.5. PLT 444 BMP: Na 138, K 1.7, Cl 110, CO2 13, BUN 2, Cr 0.61, Glucose 101, Ca 6.9 LFTs: Alb 2.0 Bili 0.2 Alk Phos 82 ALT118 AST 80 CBG: CBG: 7.27/26/71/11.3/-14 UA: SG <1.005, WBC 1, RBC 0, positive glucose, trace Hgb, negative protein, nitrite, LE (prior U/A with 30 mg/dl protein and ketones.) Normal abdominal US Normal KUB Normal CXR

Putting everything together

HPI/ROS:

Growth chart:

Poor feeding (lack of interest) + vomiting = no enough calories Fussiness, possible developmental regression

Documented weight loss Decreased weight > height (weight changes first!) Preserved OFC

Labs:

Physical Exam:

Nutritional depletion Tachycardia, poor skin turgor dehydration Fussiness but otherwise normal neuro exam

Metabolic acidosis Hypokalemia Hypophosphatemia Hypocalcemia Mild elevation of creatinine Glucosuria s hyperglycemia Low urine SG despite dehydration

Final Diagnosis

Nephrology Consulted:

Ophtho slit lamp exam:

Dx confirmed with cystine levels of leukocytes Treatment:

Deposition of crystals in the cornea

Corrected electrolyte abnormalities Started Cystagon Gradual improvement in weight Fussiness resolved, development back on track.

G tube + Cystagon

NEPHROCYSTINOSIS

Cystinosis

AR mutation in short arm of Chrom 17 1in 100,000-200,000 (4 followed by PCMC) Lysosomal storage disease More sensitive organs: KIDNEY, liver, intestine, spleen, cornea Dx confirmed w cystein levles in leukocytes
Accumulation of Cystine crystals in tissues Organ Dysfunction + increase apoptosis

Mutation in membrane carrier Cystinosin

The Kidney

#1 cause of Renal Fanconi Syndrome (Type II RTA) Failure of to reabsorb molecules in prox tubule

Water polyuria dehydration Bicarb acidosis hypokalemia Calcium hypocalcemic tetany Phosphorus rickets, delayed walking Glucose normoglycemic glucosuria water loss Proteins decreased enzymes, Igs, hormones, malnutrition

Loss of glomerular function End stage KD @ 10y

The Eye
Pathognomonic Corneal

crystal depositions
Photophobia Corneal ulcerations (30%) Retinal blindness

Treatment

Supportive

Free access to water Alkalinization: citrate, bicarb or acetate Replacement of renal losses: K, Ca, Mg, carnitine GH, phosphate and vitamin D prevention of rickets Renal transplant
Converts cystine to cysteine and cysteamino mixed disulfide can exit the lysosome Oral Q6h Topical (eyes) Q1h while awake dissolve crystals If started < 1year of age may prevent CKD

Cystagon

References

Gahagan S. Failure to thrive: a consequence of undernutrition. Pediatr Rev. 2006 Jan;27(1):e1-11. Gahl WA. Nephropathic cystinosis. Pediatr Rev. 1997 Sep;18(9):302-4. Jaffe AC. Failure to thrive: current clinical concepts. Pediatr Rev. 2011 Mar;32(3):100-7; quiz 108. doi: 10.1542/pir.32-3-100. Nesterova G, Gahl WA. Cystinosis: the evolution of a treatable disease. Pediatr Nephrol. 2013 Jan;28(1):51-9. doi: 10.1007/s00467-012-2242-5. Epub 2012 Aug 18. Up to date