Communicating hydrocephalus and lysosomal inclusions in mannosidosis.
A 32-year-old man with mannosidosis had a gait disorder develop that was associated with communicating hydrocephalus. The gait disorder improved with ventriculoperitoneal shunting, but proximal muscle weakness remained. Biopsy specimens of muscle and nerve disclosed typical lysosomal inclusions in both tissues, as well as selective loss of unmyelinated axons.
D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000150:complications / Q000473:pathology*; D006801:Humans; D006849:Hydrocephalus / Q000150:complications / Q000473:pathology*; D002479:Inclusion Bodies / Q000648:ultrastructure; D008247:Lysosomes / Q000648:ultrastructure*; D008297:Male; D008358:Mannose / Q000378:metabolism*
D008358:Mannose