Gaucher's disease: a case history with extensive lipid storage in the brain.
Patients with acute infantile or type II neuropathic Gaucher's disease demonstrate neurologic deficits that are seemingly greater than the extent of the central nervous system involvement found at autopsy. Examination of the brain of an affected child shows widespread deposition of lipid in a pattern not recognized heretofore. Based on these observations, the authors hypothesize that widespread deposition of the Gaucher glucocerebroside elicits a mild tissue response, which functionally becomes highly significant.
D001921:Brain / Q000378:metabolism / Q000473:pathology*; D002493:Central Nervous System Diseases / Q000378:metabolism / Q000473:pathology; D002554:Cerebrosides / Q000378:metabolism*; D005260:Female; D005776:Gaucher Disease / Q000378:metabolism / Q000473:pathology*; D005963:Glucosylceramides / Q000378:metabolism*; D006651:Histocytochemistry; D006801:Humans; D007223:Infant
D002554:Cerebrosides; D005963:Glucosylceramides