title: The cerebellum in mucopolysaccharidosis. A histological, histochemical, and ultrastructural study.
abstract: Studies in the morphology, histochemistry, and ultrastructure of the cerebellum, with special reference to the Purkinje cell dendrites, have been undertaken in eight cases of gargoylism. The results suggest that the demonstration of ovoid swellings of the Purkinje cell dendrites by the Cajal method for the cerebellum, together with certain histochemical findings, may enable a diagnosis of mucopolysaccharidosis to be made. Possible mechanisms for the formation of these swellings are briefly discussed.
mesh_terms: D000293:Adolescent; D001479:Basal Ganglia / Q000473:pathology; D001921:Brain / Q000473:pathology; D002525:Cerebellar Cortex / Q000473:pathology*; D002540:Cerebral Cortex / Q000473:pathology; D002648:Child; D005260:Female; D006017:Glycolipids / Q000378:metabolism*; D006651:Histocytochemistry; D006801:Humans; D002479:Inclusion Bodies / Q000378:metabolism / Q000648:ultrastructure*; D008607:Intellectual Disability / Q000378:metabolism / Q000473:pathology*; D008297:Male; D008578:Meninges / Q000473:pathology; D008854:Microscopy, Electron; D009083:Mucopolysaccharidoses / Q000378:metabolism / Q000473:pathology*; D009929:Organ Size; D011689:Purkinje Cells / Q000648:ultrastructure*; D012174:Retinitis Pigmentosa / Q000378:metabolism / Q000473:pathology*; D013577:Syndrome
chemical_list: D006017:Glycolipids