| cerebral sphingolipidosis | Any one of a group of inherited diseases characterised by failure to thrive, hypertonicity, progressive spastic paralysis, loss of vision and occurrence of blindness, usually with macular degeneration and optic atrophy, convulsions, and mental deterioration; associated with abnormal storage of sphingomyelin and related lipids in the brain. Four types are recognised as clinically and enzymatically distinct: 1) infantile type (Tay-Sachs disease, GM2 gangliosidosis) due to a deficiency of hexosaminidase A; 2) early juvenile type (Jansky-Bielschowsky or Bielschowsky's disease); 3) late juvenile type (Spielmeyer-Vogt disease; Spielmeyer-Sjogren disease; Batten-Mayou disease; ceroid lipofuscinosis); and 4) adult type (Kufs disease). Synonym: cerebral lipidosis. (05 Mar 2000) |
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| sphingolipidosis | Collective designation for a variety of diseases characterised by abnormal sphingolipid metabolism, e.g., gangliosidosis, Gaucher's disease, Niemann-Pick disease. Synonym: sphingolipodystrophy. (05 Mar 2000) |