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Question

Case for section "Diagnostic Dilemma" Full term Neonate born by LSCS--Indication-- Primi breech,was severly asphysiated at birth.After resusitation by usual protocalls was found to have the following cong anamolies;Joint contactures at hip and knee joints,dislocated wrist joints,muscle hypoplasia, genralized hypotonia,B/L undesended testis with poorly developed scrotum,low hair line with short neck,high arched palate.On second day deloped a systolic murmur without cyanosis or failure- probably VSD.On Fourth day developed progressively increasing jaundice with acholic stools.Investigations so far:CBC+platelets-Normal CRP-1:16, S.Bilirubin-27mg%Direct-20.4mg%,SGPT-30IU/L,S.Alk Phospatase-141IU/L,TORCH IgM Negative,S.Urea Creatinine-Normal,USG Abd and Brain normal,Kiddigram -absent fibula Rt. What could be the prabable diagnosis?How can rpt SGPT be normal despite such high direct bilirubinemia?

Answer

One must rule out Zellweger syndrome. The direct jaundice without raised liver enzymes is suggestive of obstruction most likely Biliary Atresia or Choledochal cyst. A USG of abdomen (especially look at gall bladder), MRCP and HIDA scan would be useful.
Regarding all the congenital anomalies, a karyotype would be required.
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