July 22, 2011 Jim Gottlieb, PGY2

HPI: 6month

old female presented with:

2 weeks of poor oral intake 3 days of respiratory distress, several episodes

of emesis, sweating Episode of cyanosis (spontaneously recovered) CXR: Marked cardiomegaly Transfer to PCMC PICU as direct admission.

HPI: 6m/o F with poor oral intake/fatigues with feeds, normal UOP, respiratory distress now with cyanosis, emesis, normal mentation PMH/Birth Hx: Born at term in Mexico, BW 3250g. Healthy Preg/delivery. Normal prenatal care. Home 24h after delivery. Newborn screening?. Intermittent constipation.

Meds: Recently started ?medication*; intermittent use of miralax Allergies: None PSH: None FH: Negative for ped/congenital illness SH: Moved to ID at age 3mo, 2 healthy older sibs. Parents migrant workers. Immunizations: Hep B#1 Diet: BF until 3mo, now similac Development: Tracks, infrequent social smile, poor head control, does not sit, no verbalization *Call PCP

VS: Wt: 4kg (50%tile for 1m) Ht: 54cm (50%tile for 1m) Temp: 37 BP: 97/58 HR: 148 RR: 28 on CPAP 5 GEN: Laying in crib with weak and almost inaudible cry at times, agitated during exam HEENT: EOMI, PERRLA, MMM, palate is intact, tongue is large, nasopharynx clear with CPAP cannula in place, oropharynx is clear, anterior fontanelle is open, flat and soft. No nasal flaring. Midfacial hypoplasia with flat nasal bridge and hypertelorism NECK: Supple, no LAD, no masses. LUNGS: CTAB, mild subcostal retractions at times, good aeration bilaterally, no crackles or wheezes. CV: Tachycardic, no murmurs, S3 gallop is present, capillary refill 3 sec; femoral pulses are 2+ ABD: Soft, nontender and nondistended, liver 4cm below the RCM, no splenomegaly, normoactive bowel sounds, reducible umbilical hernia GU: Normal Tanner stage I F external genitalia EXT: No clubbing, cyanosis, or edema SKIN: No rashes, there is a 4mm x 4mm round raised lesion on the right shoulder that is dark brown in color - mother attributes this lesion to her initial vaccine at the time of birth, no jaundice, cyanosis, pallor, or significant birthmarks. NEURO: Alert at times, spontaneously moves all extremities. General hypotonia.

Differential Diagnosis & Evaluation *

 Treatable

cause of mental retardation 85% sporadic, 15% hereditary Prevalence: 1 in 2-4,000 births
More common in girls (2:1), Hispanic and Asian,

preterm and multiple infants

1. Clinical

manifestations 2. Diagnosis 3. Treatment

Rarely recognized at birth (maternal T4) BW/BL normal, HC increased; later with poor growth Lethargy, slow movement, hoarse or weak cry, hypertelorism, feeding problems, constipation, macroglossia, umbilical hernia, large fontanels, hypotonia, dry skin, hypothermia, prolonged jaundice, genital edema, bradycardia, macrocytic anemia Congenital malformations affecting heart (cardiomegaly, pericardial effusions), kidneys, urinary tract, GI and skeletal systems

Wt: 4kg (50%tile for 1m) Ht: 54cm (50%tile for 1m) GEN: Laying in crib with weak and almost inaudible cry at times HEENT: tongue is large, hypertelorism NECK: no masses. CV: S3 gallop is present ABD: liver 4cm below the RCM, reducible umbilical hernia NEURO: General hypotonia.

Constipation, macrocytic anemia, low thyroglobulin level, absence of thyroid tissue on U/S

Classification: Central (Pituitary) Primary: Thyroid dysgenesis vs. Dysfunction in hormone synthesis Newborn screening
T4, TSH

(UT: Primary TSH, follow-up T4)

Repeat T4, TSH, consider imaging, thyroglobulin assay

 Prompt

treatment is essential. Start as soon as confirmatory testing is sent. 10-15mcg/kg/day PO; goal T4 in the upper normal range follow-up with frequent levels

Levothyroxine

Close Up

to 30% may have transient case, retest at 3 yrs of life