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Question

Dear Colleagues, Ihave come across a baby aged 3 months old,born of non consaguiinous marriage.She is a complete albin.Baby had foetal ascites with no leading cause.Ascites subsided prior to delivery only to reappear now.She also has got a splenohepatomegaly.Primary hematological workup and L.F.T. & R.F.T. are normal.Congenital infection workup is negative.We are planning for a liver biopsy.Do we need to do anything else?

Answer

Rule out congenital heart disease with left or right ventricular outflow obstruction, Inborn errors of metabolism such as Glycogen-storage disease, Lysosomal storage diseases, hypothyroidism, dysmorphism and genetic disorders and even abdominal tumors. Also Budd Chiari syndrome should be ruled out.
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