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Angiocardiographic and enzyme studies in a patient with type II glycogenosis (Pompe's disease) . A case report

Bonnici, F.; Shapiro, R.; Joffe, H.S.; Petersen, E.M.

South African Medical Journal 58(21): 860-862

1980

ISSN/ISBN: 0256-9574
PMID: 6777881
Document Number: 167294
An infant with hypotonia, gross cardiomegaly and heart failure is described. Angiocardiography revealed a hypertrophic restrictive cardiomyopathy. The diagnosis of type II glycogenosis was confirmed by the total absence of .alpha.-1,4-glucosidase in cultured skin fibroblasts. It is now possible to offer prenatal diagnosis by amniocentesis to women at risk of having affected children.

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