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Washington University Experience | METABOLIC | Pompe Disease | 1A0 Case 1 History

1A0 Case 1 History
Case 1 History ---- The decedent was a 4 month old male with a known history of Pompe Dz who developed fever, cough and rapid respirations thought to have resulted from aspiration. He was treated with antibiotics but, unfortunately, later died of fulminant pneumonia. At autopsy he had cardiac hypertrophy involving right and left ventricles and hepatomegaly. Microscopic examination of the heart and liver demonstrated a large number of foamy cells which were PAS positive and digestible by diastase, consistent with glycogen.



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