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[Generalized glycogenosis (Pompe's disease) in an 11-year-old girl]
Arkhiv Patologii
|January 1, 1978
Abstract:
A case of cardiomegalic glycogenosis in a girl of 11 is described. The autopsy revealed cardial hypertrophy, hepatomegaly and enlargement of the kidneys. Histologically, diffuse accumulation of glycogen in the heart muscle, liver, epithelium of the convoluted tubules of the kidneys and in skeletal muscles was demonstrated. The features of the observation include the long-term course of the disease and combination of cardiomegalic glycogenosis with hepato-renal manifestations of enzymopathies.