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Medical AI Inquiry: You were designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.
user
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?
assistant
The correct answer is  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