Grand Rounds

Jaundice and pulmonary stenosis

Medical Sciences Department, Pediatric Oncall, Mumbai

Address for Correspondence: Dr Ira Shah, 1, B Saguna, 271, B St Francis Road, Vile Parle {w}, Mumbai 400056

Clinical Problem :
A 2½ years old child born of third degree consanguineous marriage presented with gradual abdominal distension and jaundice since 1½ months. She was seen by a physician 1½ months back and treated with steroids and also received a blood transfusion. There is high coloured urine. Milestones are normal and birth was uneventful. She is immunized till date but has not received Hepatitis B vaccine. On examination, she has steroid facies, is normal nourished, has jaundice, hepatosplenomegaly and other systems are normal. Investigations showed:
• Bilirubin = 11.5 mg, dl {Direct bilirubin = 5.8 mg, dl}
• SGOT = 118 IU, L, SGPT = 120 IU, L
• Total proteins = 5.9 gm, dl, Albumin = 3.4 gm, dl
• Serum alkaline phosphatase = 553 IU, L {Normal}
• Prothrombin Time and partial thromboplastin time = Normal
• USG Abdomen = Hepatosplenomegaly. No varices
• Liver biopsy = Bile duct paucity
• Echocardiography = Left ventricular hypertrophy with mild pulmonary stenosis
• CBC = Normal
• HIV, HBsAg = Negative

What is the diagnosis_?

Discussion :
This child has arteriohepatic dysplasia {hepatic – bile duct paucity` arterial – pulmonary stenosis} which is also known as syndromic bile duct paucity or Alagille syndrome. It consists of a paucity of interlobular bile ducts with chronic cholestasis. Patients with this syndrome typically have the following major features: peculiar facies, chronic cholestasis, butterfly-like vertebral arch defects, and peripheral pulmonary artery hypoplasia or stenosis` either isolated or associated with complex cardiovascular abnormalities.

Correct Answers :  yes 52%
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