cerebral sphingolipidosis

ce·re·bral sphin·go·lip·i·do·sis

any one of a group of inherited diseases characterized 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 recognized as clinically and enzymatically distinct: infantile type (Tay-Sachs disease, G_M2 gangliosidosis) due to a deficiency of hexosaminidase A; early juvenile type (Jansky-Bielschowsky or Bielschowsky disease); late juvenile type (Spielmeyer-Vogt disease; Spielmeyer-Sjögren disease; Vogt-Spielmeyer disease; Batten-Mayou disease; Batten disease; ceroid lipofuscinosis); and adult type (Kufs disease). Synonym(s): cerebral lipidosis

familial cerebral lipidosis

A generic term for a group of lipid storage diseases—e.g., GM2 gangliosidosis—that have their greatest impact on the brain.

单词	cerebral sphingolipidosis
释义	cerebral sphingolipidosis ce·re·bral sphin·go·lip·i·do·sis any one of a group of inherited diseases characterized 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 recognized as clinically and enzymatically distinct: infantile type (Tay-Sachs disease, G_M2 gangliosidosis) due to a deficiency of hexosaminidase A; early juvenile type (Jansky-Bielschowsky or Bielschowsky disease); late juvenile type (Spielmeyer-Vogt disease; Spielmeyer-Sjögren disease; Vogt-Spielmeyer disease; Batten-Mayou disease; Batten disease; ceroid lipofuscinosis); and adult type (Kufs disease). Synonym(s): cerebral lipidosis familial cerebral lipidosis A generic term for a group of lipid storage diseases—e.g., GM2 gangliosidosis—that have their greatest impact on the brain.
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