A 1-month-old child presented with conjugated bilirubinemia and intrahepatic cholestasis. On Liver biopsy staining with PAS, red colored granules were seen inside the hepatocytes. Probable diagnosis is:

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C. Alpha-1 antitrypsin deficiency. Ans: C. Alpha-1 antitrypsin deficiency(Ref Harrison 19/e 367-e2; Nelson 20/e p2052; Robbins. 9/e p815)Most probable diagnosis = Alpha-I Antitrypsin deficiency.Alpha-I Antitrypsin deficiency:Diagnosis:Confirmed by blood tests.Reduced levels of serum AAT & accompanied by Pi determinations.Liver biopsy:Determines stage of hepatic fibrosis.Shows characteristic PAS-positive & diastase-resistant round- to-oval cytoplasmic globular inclusions inside hepatocytes of lobule periphery.

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A. Congenital hepatic fibrosis

Answer

B. Wilson's disease

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D. Hemochromatosis

A 1-month-old child presented with conjugated bilirubinemia and intrahepatic cholestasis. On Liver biopsy staining with PAS, red colored granules were seen inside the hepatocytes. Probable diagnosis is:

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A 1-month-old child presented with conjugated bilirubinemia and intrahepatic cholestasis. On Liver biopsy staining with PAS, red colored granules were seen inside the hepatocytes. Probable diagnosis is:

Explanation

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