| CD | Canavan disease |
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| canavan disease | Spongy degeneration of cerebral white matter, a rare autosomal recessive form of leukodystrophy. It is characterised by early onset, widespread demyelination and vacuolation of the white matter that gives rise to a spongy appearance, severe mental retardation, megalocephaly, atony of the neck muscles, spasticity of the extremities, and blindness. Death occurs at about 18 months of age. (12 Dec 1998) |
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| Canavan, Myrtelle | <person> U.S. Pathologist, 1879-1953. See: Canavan's disease, Canavan's sclerosis, Canavan-van Bogaert-Bertrand disease. (05 Mar 2000) |
| Canavan's disease | Autosomal recessive degenerative disease of infancy; mostly in Jewish infants; onset typically within first 3-4 months of birth, consisting of blindness, psychomotor regression, enlarged head, optic atrophy, hypotonia, spasticity, increased N-acetylaspartic acid urinary excretion. MRI shows enlarged brain, decreased attenuation of cerebral and cerebellar white matter, and normal ventricles. Pathologically, there is increased brain volume and weight, and spongy degeneration in the subcortical white matter. See: leukodystrophy. Synonym: Canavan's sclerosis, Canavan-van Bogaert-Bertrand disease, spongy degeneration of infancy. (05 Mar 2000) |
| Canavan's sclerosis | Autosomal recessive degenerative disease of infancy; mostly in Jewish infants; onset typically within first 3-4 months of birth, consisting of blindness, psychomotor regression, enlarged head, optic atrophy, hypotonia, spasticity, increased N-acetylaspartic acid urinary excretion. MRI shows enlarged brain, decreased attenuation of cerebral and cerebellar white matter, and normal ventricles. Pathologically, there is increased brain volume and weight, and spongy degeneration in the subcortical white matter. See: leukodystrophy. Synonym: Canavan's sclerosis, Canavan-van Bogaert-Bertrand disease, spongy degeneration of infancy. (05 Mar 2000) |
| Canavan-van Bogaert-Bertrand disease | Autosomal recessive degenerative disease of infancy; mostly in Jewish infants; onset typically within first 3-4 months of birth, consisting of blindness, psychomotor regression, enlarged head, optic atrophy, hypotonia, spasticity, increased N-acetylaspartic acid urinary excretion. MRI shows enlarged brain, decreased attenuation of cerebral and cerebellar white matter, and normal ventricles. Pathologically, there is increased brain volume and weight, and spongy degeneration in the subcortical white matter. See: leukodystrophy. Synonym: Canavan's sclerosis, Canavan-van Bogaert-Bertrand disease, spongy degeneration of infancy. (05 Mar 2000) |
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