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Infantile Pompe — RACP Paediatrics MCQ

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HardGeneticsInfantile PompeRACP Paediatrics

A 4-month-old has severe hypotonia, cardiomegaly, macroglossia, hepatomegaly. CK markedly elevated. Echo: severe HCM. Absent acid alpha-glucosidase. What is the diagnosis?

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Correct answer: D — Pompe disease

Infantile Pompe: hypotonia, HCM, macroglossia, hepatomegaly, high CK. Without ERT, fatal in first year. Now on NBS in some Australian states.

Reference: RACP Paediatric Curriculum – Metabolic/Genetics