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:
High-Yield Explanation
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.