Type II Glycogenosis: Report of a Case With Four-Year Survival and Absence of Acid Maltase Associated With an Abnormal Glycogen

POMPE'S DISEASE, or type II glycogenosis,¹ is characterized by muscular hypotonia, weakness, cardiomegaly, and frequently cardiac decompensation. There is a generalized increase in glycogen deposition, and Hers² has demonstrated an absence of the lysosomal acid maltase. As a rule these patients die before reaching 1 year of age, but there are reported exceptions.³

This is a report of a patient surviving into the fourth year of life, with data relative to the clinical, bioelectric, and biochemical findings. An abnormal glycogen was found which did not appear to result from an enzyme deficiency.

Report of a Case  This white girl was 3½-years old when first admitted to the St. Jude Hospital in July 1962, for investigation of muscle weakness, developmental retardation, and encopresis. The parents, a brother, and two sisters were in good health. During early infancy she was considered normal except for a poor suck and a