Canavan disease

Pronunciation: kan′ă-van

Definition: 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.

Synonym(s): Canavan sclerosis, Canavan-van Bogaert-Bertrand disease, spongy degeneration of infancy

See Also: leukodystrophy

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