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  • Title: Clinical and MRI findings in a case of D-2-hydroxyglutaric aciduria.
    Author: Sugita K, Kakinuma H, Okajima Y, Ogawa A, Watanabe H, Niimi H.
    Journal: Brain Dev; 1995; 17(2):139-41; discussion 144-5. PubMed ID: 7625550.
    Abstract:
    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 eventual development of generalized myoclonic seizures. Gas chromatographic analysis of urinary organic acids showed persistent excretion of D-2-HG. The clinical manifestations are quite similar to those of the 2nd reported case with D-2-HG aciduria. Serial MRI performed 1 year and 2 1/2 years after birth demonstrated bilateral symmetrical periventricular lesions in the parieto-occipital white matter, which might reflect the cortical blindness in our patient.
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