Adult polysaccharidosis. Clinicopathological, ultrastructural, and biochemical features
N. S. Peress, S. DiMauro and V. A. Roxburgh
An abnormal polysaccharide in the form of cytoplasmic spheroids was found
in the nervous system and systemic organs of a man with a progressive
neurological disorder characterized by onset at 47 years of age, severe
weakness, sensory loss, and dementia. Results of biochemical analysis
showed a marked increase in brain and heart polysaccharide that was
resistant to digestion by a mixture of glucosidases and that exhibited an
iodine-complex spectrum higher than that of normal glyocgen. Results of
histochemical studies were consistent with the results of biochemical
analysis and further defined the branching characteristics of the stored
polysaccharide. Electron microscopy showed the cytoplasmic location of the
spheroids, which were granular and filamentous.
