spongy degeneration of infancy

Can·a·van dis·ease

(kan'ă-van), [MIM*271900] progressive degenerative disease of infancy; mostly affecting Ashkenazi Jewish babies; onset typically within the first 3-4 months of birth; characterized by megalencephaly, optic atrophy, blindness, psychomotor regression, hypotonia, and spasticity; there is increased urinary excretion of N-acetylaspartic acid. MRI shows enlarged brain, decreased attenuation of cerebral and cerebellar white matter, and normal ventricles; pathologically, there are increased brain volume and weight and spongy degeneration in the subcortical white matter. Autosomal recessive inheritance, caused by mutation in the aspartoacyclase A gene (ASPA) on chromosome 17p in Jewish and non-Jewish affected people.
See also: leukodystrophy. Synonym(s): Canavan sclerosis, Canavan-van Bogaert-Bertrand disease, spongy degeneration of infancy

spongy degeneration of infancy

Canavan-Van Bogaert-Bertrand disease An AR condition characterized by diffuse vacuolization of the deep cerebral cortex, predominantly affecting the white matter, but also the gray matter, caused by hydropic degeneration of the glia and myelin Clinical Onset in early infancy with hypotonia and poor head control, hyperextension of legs and flexion of arms, optic atrophy and blindness, severe mental retardation, rigidity, hyperreflexia, seizures and progressive macrocephaly; death occurs by 18 months of age. Cf Leukodystrophy.

Canavan,

Myrtelle M., U.S. pathologist, 1879-1953. Canavan disease - autosomal recessive degenerative disease of infancy. Synonym(s): Canavan sclerosis; Canavan-van Bogaert-Bertrand disease; spongy degeneration of infancyCanavan sclerosis - Synonym(s): Canavan diseaseCanavan-van Bogaert-Bertrand disease - Synonym(s): Canavan disease