[Long term clinical course of Canavan disease--a rare Japanese case].

[canavan disease]

Canavan disease (CD ), which is a rare disease in Japan , is an autosomal-recessive neurodegenerative disorder caused by mutations in aspartoacylase , an enzyme that deacetylates N-acetylaspartate to generate free acetate in the brain . CD affected children usually die by the age of 10 years . Here we report a long term clinical course of a 21 -year -old Japanese woman who was diagnosed as CD at the age 4 . This patient is the only reported case of CD in Japan that has been biochemically confirmed . Although this patient is currently bed-ridden with spastic quadriplegia and severe mental retardation , her general condition is quite stable . This patient showed a milder clinical course compared to the majority of CD patients . Because this is the only reported case of CD in Japan , we hypothesize that there might be an ethnic phenotypic polymorphism in CD .