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?
|
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.
|
