Jaundice with triangular facies and pulmonary stenosis

Ira Shah, Aditi Joshi
Medical Sciences Department, Pediatric Oncall, Mumbai, India.

Clinical Problem:
A 2½ years old girl born of third degree consanguineous marriage presented with progressive abdominal distension for one and a half months along with jaundice at onset. There was no bleeding manifestation or altered sensorium. She was born at full term and there were no perinatal problems. She has an eight month old sister who is asymptomatic. She is immunized for age and has normal milestones. On examination, she had pinched nose with triangular facies. Vital parameters were normal. On systemic examination she had hepatosplenomegaly. Other systems were normal. Ultrasound abdomen showed hepatosplenomegaly. Serum bilirubin was 11.5 mg/dl (direct bilirubin = 5.8 mg/dl), SGOT was 118 IU/L, SGPT = 120 IU/L, total proteins = 5.9 gm/dl, albumin = 3.4 gm/dl, alkaline phosphatase = 553 IU/L. Her hemoglobin was 11.6 gm%, white cell count of 5,900/cumm and platelet count of 2,01,000/cumm. Echocardiography showed left ventricular hypertrophy with mild pulmonary stenosis and liver biopsy showed bile duct paucity. X-Ray spine and ophthalmological examination was normal.

What is the diagnosis?