Diagnostic Dilemma

Recurrent jaundice with pruritis

A 10 months old boy born of third degree consanguineous marriage presented with recurrent jaundice and itching all over the body since 3 months of age. Elder sibling had also died of similar complaints at 8 years of age. On examination, weight was 7.1 kg. Other systems were normal. Investigations showed:
• Bilirubin = 3.6 mg, dl {direct = 2.4 mg, dl}, SGOT = 220 IU, L, SGPT = 240 IU, L, Total proteins = 7.5 gm, dl, Albumin = 3.8 gm, dl, GGTP = 150 IU, L, alkaline phosphatase = 3266 IU, L,
• USG Abdomen – Normal
• Liver biopsy – No cholestasis, necrosis or inflammation

What is the likely diagnosis_?
Expert Opinion :
Since the patient had recurrent jaundice with itching and similar problem in another child, one would suspect conditions such as PFIC. However GGTP is elevated and liver biopsy is not suggestive of the same.
For Alagille syndrome, he does not have characteristic facies and echocardiography was normal.

He underwent an MRCP and it was suggestive of choledochal cyst.
Answer Discussion :
will grist
biliary atresia
9 years ago
biliary atresia
9 years ago

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