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Alpha-1 antitrypsin deficiency — RACP Paediatrics MCQ

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HardGIAlpha-1 antitrypsin deficiencyRACP Paediatrics

A newborn with neonatal cholestasis has serum alpha-1 antitrypsin level that is markedly reduced. Pi typing shows PiZZ phenotype. Liver biopsy shows PAS-positive, diastase-resistant globules in hepatocytes. What is the most likely diagnosis?

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Correct answer: D — Alpha-1 antitrypsin deficiency

Alpha-1 antitrypsin deficiency (PiZZ phenotype) is the most common genetic cause of liver disease in children. Hepatic manifestations range from neonatal cholestasis to cirrhosis. Liver biopsy showing PAS-positive diastase-resistant globules is characteristic. There is no specific treatment; liver transplantation may be required for end-stage liver disease.

Reference: RACP Paediatric Curriculum – GI; RCH Melbourne – 2023 – Neonatal Cholestasis CPG