1 month old newborn presents with conjugated Hyperbilirubinemia, intrahepatic cholestasis and high alkaline phosphatase. Eosinophilic, PAS positive cytoplasmic granules are seen in liver biopsy specimen. Diagnosis is?
Correct Answer: Alpha 1 AT deficiency
Description: a. Alphal AT deficiency(Ref: Nelson's 20/e p 871-879, Ghai 8/e p 172-176)The given clinical features & investigation findings are suggestive of Alphal Antitrypsin deficiency.Alphal AT deficiencyIt usually presents as neonatal cholestasis or later-onset childhood cirrhosisal -Antitrypsin, a protease inhibitor synthesized by liver, protects lung alveoli from destruction by neutrophil elastaseNormal phenotype is PiMM; In affected patients with PiZZ, polymers of, AT are retained in the ER of hepatocytesIn liver biopsy, periodic acid-Schiff (PAS)-positive diastase-resistant globules are seen, primarily in periportal hepatocytes
Category:
Pediatrics
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