Clinical and MRI findings in a case of D-2-hydroxyglutaric aciduria

Brain Dev. 1995 Mar-Apr;17(2):139-41; discussion 144-5. doi: 10.1016/0387-7604(94)00123-f.

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.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / diagnosis
  • Amino Acid Metabolism, Inborn Errors / physiopathology*
  • Amino Acid Metabolism, Inborn Errors / urine
  • Blindness / physiopathology
  • Brain / pathology*
  • Chromatography, Gas
  • Glutarates / urine*
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Seizures / physiopathology*
  • Seizures / urine

Substances

  • Glutarates
  • alpha-hydroxyglutarate