Protracted course of N-acetylaspartic aciduria in two non-Jewish siblings:identical clinical and magnetic resonance imaging findings

Canavan disease (CD) or N-acetylaspartic aciduria (NAA) is a severe, progre ssive, autosomal recessive leukodystrophy, occurring mainly among Ashkenazi Jewish individuals. We report clinical and MRI findings in two, non-Jewish , Greek siblings, 7 and 5 years, respectively, with a protracted form of NA A. The constellation of identical clinical course and identical MRI finding s with involvement of the basal ganglia, the brainstem, the dentate nucleus and the subcortical white matter in both siblings, as well as the absence of the three commonest mutations found in both Jewish and non-Jewish CD pat ients, give support to the existence of a protracted form of NAA with a mil der clinical course, presumably genetically determined. (C) 1999 Elsevier S cience B.V. All rights reserved.