CLINICAL AND PATHOLOGICAL-STUDY OF 3 TUNISIAN SIBLINGS WITH L-2-HYDROXYGLUTARIC ACIDURIA

This report describes three brothers belonging to a consanguineous fam ily suffering from a progressive neurological disorder associated with L-2-hydroxyglutaric aciduria. Clinically this disorder is characteriz ed by childhood onset, pyramidal signs, cerebellar and pseudobulbar sy ndromes and epilepsy. Pathological examination of the brain in the old est patient, who died at the age of 30 years, showed bilateral and dif fuse spongiosis with notable cystic cavitations of the cerebral white matter without abnormal storage in neurons and glial cells. We conside r that these findings are related to L-2 hydroxyglutaric aciduria. To our knowledge this present case represents the first to be reported wi th neuropathological examination.