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Infantile Pompe disease — RACP Paediatrics MCQ

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HardGeneticsInfantile Pompe diseaseRACP Paediatrics

A 4-month-old presents with severe hypotonia, cardiomegaly, macroglossia, and hepatomegaly. CK is markedly elevated. Echocardiography shows severe hypertrophic cardiomyopathy. Enzyme assay shows deficient acid alpha-glucosidase (acid maltase). What is the most likely diagnosis?

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Correct answer: C — Pompe disease

Infantile Pompe disease (glycogen storage disease type II, acid maltase deficiency) presents with severe hypotonia ('floppy baby'), hypertrophic cardiomyopathy, macroglossia, hepatomegaly, and elevated CK. Without enzyme replacement therapy (ERT, alglucosidase alfa), it is fatal in the first year from cardiorespiratory failure. Pompe disease is now detected on newborn screening in some Australian states.

Reference: RACP Paediatric Curriculum – Metabolic/Genetics; RCH Melbourne – 2023