Cardiac Pathology: Genetic: Glycogen storage disease Type II (Pompe disease)

01 July 2011
Presented by Mary Sheppard.

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A 1973 autopsy specimen from a male infant who died at five months of age. He was born at term after a normal pregnancy. At the age of nine weeks he began to have attacks of trembling lasting five minutes. He was slow to feed,'chesty' and floppy. He was admitted to Guy's at the age of four months as a floppy baby with hepatomegaly. His condition deteriorated inexorably to his death three weeks later.

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