A CASE OF CANAVAN DISEASE - THE 1ST BIOCHEMICALLY PROVEN CASE IN A JAPANESE GIRL

Canavan disease (CD) has only been diagnosed on autopsy or brain biops y, however, specific biochemical markers, such as N-acetylaspartic aci d (NAA) and aspartoacylase activity, have recently been described in C D. We report a case of CD having the above biochemical markers. High l evels of NAA were found in her urine, serum and CSF. Fibroblasts did n ot exhibit aspartoacylase activity. Clinically, she presented progress ive psychomotor retardation, cerebellar signs, pyramidal signs and rel ative megalencephaly. CT and MRI showed findings of leukodystrophy. Th e evoked potentials showed widespread involvement in the brainstem. Ma gnetic resonance spectra showed a high level of NAA in the white matte r. In Japan, this case is the first of CD determined on the basis of b iochemical markers.