2 CASES OF GLUTARIC ACIDURIA TYPE-1 - CLINICAL AND NEUROPATHOLOGICAL FINDINGS

We report clinical and neuropathological studies of 2 patients with gl utaric aciduria type 1. A 10-month-old male with involuntary movements expired suddenly at home. The second, a 15-year-old female, died afte r three episodes of acute encephalopathy including a Reye syndrome-lik e episode and an episode of severe hypoglycemia. Hypocarnitinemia was also present. Selective involvement of type II muscle fibers was obser ved during the Reye syndrome-like episode. Magnetic resonance imaging of the 2 patients showed marked widening of the sylvian fissure, atrop hy of the basal ganglia, and white matter lesions. Neuropathology of t he 10-month-old patient showed: (1) temporal and frontal lobe hypoplas ia, (2) degeneration of the putamen and the pallidum, (3) mild status spongiosus in the cerebral white matters, (4) heterotopic neurons in t he cerebellum, and (5) hypoplasia of the cerebral white matter. This p atient appeared to manifest a migration and/or maturation abnormality of the brain as well as previously observed basal ganglia and white ma tter degeneration.