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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.