CLINICAL AND MRI FINDINGS IN A CASE OF D-2-HYDROXYGLUTARIC ACIDURIA

We report the 3rd case in the literature of a 3-year-old boy with D-2- hydroxyglutaric (D-2-HG) aciduria, who presented primarily generalized hypotonia and feeding difficulty during the neonatal period, with eve ntual development of generalized myoclonic seizures, Gas chromatograph ic analysis of urinary organic acids showed persistent excretion of D- 2-HG. The clinical manifestations are quite similar to those of the 2n d reported case with D-2-HG aciduria, Serial MRI performed 1 year and 2 1/2 years after birth demonstrated bilateral symmetrical periventric ular lesions in the parieto-occipital white matter, which might reflec t the cortical blindness in our patient.