Pompe's disease: ultrastructural alterations of muscle tissue in parents.

A histological, histochemical and ultrastructural study of muscle tissue was performed in the parents of a patient affected by a infantile form of acid maltase deficiency (Pompe's disease). In both parents the clinical examination was normal, but serum levels of creatine kinase (CK) and aldolase were high. Histological and histochemical examination of muscle did not reveal any abnormality. Ultrastructural study showed an excess of glycogen granules below the sarcolemmal sheat and between myofibrils, often associated with clusters of mitochondria. There was no glycogen trapped in lysosomal vesicles. The mechanism of glycogen storage in Pompe's disease seems to involve an enzymatic deficiency other than acid maltase.