Neuropathological and neurochemical aspects of generalized glycogen storage disease

Abstract

In addition to histological examination of somatic tissues extensive neuropathological and neurochemical studies were made of the central nervous system in two infants, ages 8 and 11 months, dying of generalized glycogenosis. Histological study of the heart showed hypertrophy and vacuolation of most myocardial fibers with a large amount of glycogen present in the capillary endothelial cells. Skeletal muscle fibers were also found tobe distended, vacuolated and filled with glycogen. Glycogen granules were particularly numerous within the epithelial cells of the distal convoluted and the collecting tubules. Gross glycogen deposition was apparent in the liver, many cells of the pituitary and the cortical cells of the adrenal. Histological findings in the central nervous system were as follows (1) widespread neuronal and glial glycogen storage; (2) cytoplasmic vacuolation of many neurons; (3) generalized fibrous gliosis of both the white and grey matter of the brain stem; (4) a well-marked deficiency of cerebral lipids especially total phospholipid, cholesterol and cerebroside; and (5) normal levels of cholesterol esters.