This is a real-world medical entrance exam question, please give the true answer based on the question and selection. Topic name: New Born Infants, Subject name: Pediatrics
[{'content': '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? \nSelect and explain. \nA. Alpha 1 AT deficiency, B. Cong hepatic fibrosis, C. Extrahepatic biliary atresia, D. Ductal plate defect', 'role': 'user'}, {'content': "Answer: A \nExplanation: 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", 'role': 'assistant'}]