Bile Duct Paucity in Infancy

CASE HISTORY

An infant with dysmorphic features was referred to our service for evaluation of conjugated hyperbilirubinemia at 1 week of age. He was born full-term via spontaneous vaginal delivery with forceps, small for gestational age with intrauterine growth restriction, birth weight being 2045 g (< 3rd percentile). He was Caucasian with no consanguinity. He had been admitted to the NICU for hypoglycemia and polycythemia requiring an exchange transfusion on the second day of life. By the following day, he had developed respiratory distress and was noted to have splenomegaly, thrombocytopenia, and direct hyperbilirubinemia. He had normal pigmented stools and was on breast milk feeds. There was no significant family history.

On initial physical examination, the infant was small for age and had dysmorphic features. His facies was triangular with wide mouth and tongue and small chin and prominent ears. He had no cleft palate. His sclerae were icteric. His skin was jaundiced without any other lesions. His chest was clear to auscultation. He required oxygen via nasal cannula. His heart exam revealed 3/6 systolic murmur, with radiation to the pulmonic region. His abdomen was soft, nondistended with a reducible umbilical hernia. The liver was palpable 2 cm below the costal margin. Spleen was not palpable. Neurologically, he had a good suck, positive Moro reflex, and good grasp.

On day 3, his blood tests revealed white blood cell (WBC) count of 8.3 × 10³/mL, hemoglobin of 21.9 g/dL, and platelet count of 66 × 10³/mL. His aspartate aminotransferase (AST) was 248 U/L (normal, 1 to 53 U/L), alanine aminotransferase (ALT) was 67 U/L (normal, 1 to 150 U/L), total bilirubin was 12.7 mg/dL (normal, 0.1 to 1.2 mg/dL), conjugated bilirubin was 7.8 mg/dL (normal, 0 to 0.8 mg/dL), and γ-glutamyltransferase (GGT) was 36 U/L (normal, 10 to 54 U/L). Prothrombin time (PT) was 19.3 seconds (normal, 13 to 15 seconds), International Normalization Ratio (INR) was 1.6, albumin was 2.6 g/dL, and initial calcium was 7.0 mg/dL (normal, 8.5 to 11 mg/dL). TORCH screen was negative. α₁-Antitrypsin phenotype showed no detection of Z or S with antitrypsin level of 129 mg/dL (normal, 100 to 190 mg/dL).

An abdominal and kidney ultrasound showed “normal appearing liver without evidence of biliary ductal dilatation with a normal gallbladder and common bile duct with mildly prominent vessels within the liver, which appeared to represent hepatic veins.” Renal scan showed normal bilateral renal flow and function. Anteroposterior/lateral spine X-ray films showed slight central narrowing of vertebral bodies extending from T3 to T7, which may represent butterfly vertebrae. Cardiology consultation was also obtained in light of enlarged heart silhouette and 3/6 continuous systolic murmur. An echocardiogram showed mild supravalvular pulmonic stenosis with a patent foramen ovale. Due to the syndromic features and congenital heart disease, genetics was consulted and chromosome studies were ordered. The patient was placed on breast milk supplemented with MCT oil, vitamins A, D, E, and K, started on ursodiol, and was discharged on day 21 to be followed up in our outpatient clinic in 2 weeks.

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