Morning Report

6/8/15
Laura L. Brown, MD/PGY-3

Case Presentation:
Overnight in the WBN
HPI: Term, AGA, 28 hour old male infant with
poor feeding secondary to persistent difficulty
latching and poor oromotor coordination.
Additionally with newly noted hypothermia (T 36)

Birth History: Born at 41 and 2/7 wga to a 28

yo G2P1001 mom via vacuum-assisted NSVD
following prolonged labor w/ NRFHTs. Apgars 7,
9, required W/D/S.
Mom A+/-, GBS positive but adequately treated.
Complicated by maternal obesity, failed 1 hr GTT,
delayed prenatal care (21 weeks)

Case Presentation,
Contd
FHx: Mother with obesity, depression (on
Zoloft during pregnancy), and
developmental delay (IQ 70).
Paternal history unknown.

SHx: To live with mother and maternal

grandparents. No in utero illicit drug,
tobacco, or alcohol exposure.
Maternal half-sibling placed for adoption

Physical Exam
BW 3.8kg (84%ile), Length47cm (13%ile), HC 35cm (50%ile); T 36, P 148, BP
73/43, R 38
GEN: Non-dysmorphic infant sleeping comfortably in NAD
HEENT: AFOSF and not enlarged, no macroglossia, RR present b/l, PERRL, normal
external ears, no ankyloglossia, no micrognathia, MMM, nares patent b/l.
CV: RRR, nl S1/S2, II-III/VI holosystolic murmur at LUSB radiating
throughout the precordium, distal pulses 2+ b/l, cap refill 2 sec throughout.
RESP: CTAB, nl WOB.
ABD: +BS, soft, NT/ND, no HSM or masses. Small umbilical hernia noted.
Three-vessel cord.
GU: Normal uncircumcised male genitalia.
DERM: Jaundiced to upper chest, mild E. tox.
NEURO: Arouses appropriately with exam, subtly hypotonic throughout,
normal newborn reflexes, poorly coordinated suck/swallow

Differential Diagnosis
Infectious
Neonatal sepsis/meningitis (GBS, E. Coli, HSV), pneumonia

Respiratory
Meconium aspiration, spontaneous pneumothorax

Cardiac
CHD (ductal-dependent lesion)

Metabolic/Genetic
Inborn error of metabolism, hypoglycemia, hypocalcemia, hypothyroidism,
Beckwith-Wiedemann syndrome, Prader-Willi syndrome, genetic syndrome NOS

Gastrointestinal
NEC

Neurological
Intracranial hemorrhage, structural brain anomaly

Other
Wrong dates (infant preterm and LGA)

Our Work-up
CBC w/ diff, CRP, glucose wnl; Bili at light level;
CSF counts wnl; blood and CSF cultures NG final
TSH 228mU/L, Free T4 0.2ng/dL,
thyroglobulin pending
TSH peaks around at 60-80 around 30 min of life,
decreases to 20 around 24 hours of life, and to 610 around 1 week

CXR unremarkable, echocardiogram confirmed

small VSD

Congenital
Hypothyroidism
1:2000-1:4000 newborns
Most cases (85%) are sporadic
Risk factors: AMA, prematurity, multiple gestation, female gender (2:1), T21 (1:50
newborns), Hispanic ethnicity

Most common cause is thyroid dysgenesis (agenesis, hypoplasia, or

ectopy)
Rare cases associated with LOF mutations in PAX-8, TTF-2, and NKX2.1/.5

Other etiologies: resistance to TSH, autosomal recessive disorders of

thyroid hormone synthesis and secretion, defects in thyroid hormone
transport or metabolism, resistance to thyroid hormone, central
hypothyroidism, transient hypothyroidism, large hepatic hemangiomas
Most common preventable cause of intellectual disability
Inverse relationship between age at clinical diagnosis and treatment initiation and
intelligence quotient later in life

See UpToDate
Clinical features and detection of
congenital hypothyroidism

Congenital
Hypothyroidism: Clinical
Manifestations
Most (95%) are asymptomatic at birth
Signs and symptoms:
Term or postdates
Normal anthropometrics, though weight %ile often proportionally
higher (myxedema)
Poor feeding/weight gain, decreased activity, large anterior
fontanelle, jaundice, decreased stooling, hypotonia, hoarse cry,
coarse facial features, macroglossia, umbilical hernia,
mottled/cool/dry skin, pallor, anemia, absence of distal femoral
epiphysis

Associated congenital malformations:

Cardiac, Renal/urinary tract, GI, skeletal
Congenital hypothyroidism + cleft palate ? TTF-2 mutation
Congenital hypothyroidism + pulmonary disease + neurologic
abnormalities ? NKX2.1 mutation

Congenital
Hypothyroidism

absence of
distal femoral
epiphysis
Radiograph of LLE of two infants, showing on the left.
Rastogi and LaFranchi
Orphanet Journal of Rare Diseases 2010 5: 17

Congenital Hypothyroidism:
Management
Early diagnosis and thyroid hormone replacement
before 10-13 days of life, with normalization of
thyroid hormone levels by 3 weeks
Levothyroxine 10-15mcg/kg/day (~50mcg)
TSH and free T4 two weeks after initiation of
levothyroxine, and every two weeks until levels have
normalized; then every 1-3 months for the first 12
months, every 2-4 months between 1-3 years of age,
and every 6-12 months until growth is complete.
Goal: free T4 in upper half of normal range, serum TSH
< 5mU/L
No liquid formulation crushed pills
Soy decreases absorption and metabolism