Neonatal Cholestasis: A Rare and Unusual Presentation of Pit
A 40-day-old girl has admitted for progressive cholestatic jaundice appeared on the third day of life. The child was born at full term from a non-consanguineous marriage with a birth weight of 3500 g (25–50th birth weight percentile). Her perinatal history went without incident; no episodes of hypoglycemia or seizures were noted. Family history did not involve hepatobiliary disease or endocrine disorder.

Physical examination showed icteric skin and sclera, with dark urine and pale stool, without hepatomegaly or splenomegaly. No obvious facial dysmorphism was observed. Abdominal ultrasound and magnetic resonance cholangiopancreatography showed normal liver and gallbladder anatomy and patent hepatobiliary tract, ruling out the possibility of biliary atresia. Amino acid analyses did not show any abnormalities. Test screening for hepatitis viruses (TORCH infections) was negative. Hemoglobin was 9.6 g/dl, white blood cells were 12400/mm3, CRP was 18 mg/l, and urine cytobacteriological examination showed a urinary tract infection with Klebsiella pneumonia, and she had been treated successfully, but jaundice persisted.

Then, pituitary hormonal profiles showed a low morning serum cortisol level at 1.30 g/dl (reference range: 8, 7–22, 40 g/dl) and a normal plasma adrenocorticotropic hormone (ACTH) level at 8.9 ng/l (reference range: 5–60 ng/l), indicating secondary adrenal insufficiency. Thyroid function tests showed a low free T4 level of 8.6 pmol/L (reference range: 12–22 pmol/L) and a normal TSH level of 3.61 mIU/L, suggesting central hypothyroidism. A low, insulin-like growth factor-1 (IGF-1) level less than 10 ng/ml (reference range: 19–104 ng/l) in combination with deficiency of more than two pituitary hormones was highly indicative of growth hormone deficiency. A magnetic resonance imaging (MRI) of the head revealed a small anterior pituitary gland, an invisible stalk, and an ectopic posterior lobe (Figure 1). The infant was diagnosed with pituitary stalk interruption syndrome.

The treatment consisted of hormone replacement with hydrocortisone (15 mg/m2/day) and subsequently L-thyroxin (3.5 g/kg/day). GH therapy is not yet initiated. After 3 months of follow-up, jaundice disappeared completely and the growth was still within the norms.

Source :https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8166483/
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