Diffusion-weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria

J Inherit Metab Dis. 2003;26(5):417-22. doi: 10.1023/a:1025106909213.

Abstract

Diffusion-weighted magnetic resonance imaging (DW-MRI) of the brain was performed in two patients with methylmalonic aciduria who presented signs and symptoms of neurological involvement without metabolic decompensation. Patient 1 presented acute metabolic stroke and patient 2 presented subacute encephalopathy. Brain DW-MRI confirmed very recent damage in patient 1, while the absence of brain lesions on brain DW-MRI indicates the development of more chronic damage in patient 2. Brain DW-MRI represents an additional and complementary tool in the assessment of brain damage in methylmalonic aciduria patients who develop neurological syndrome.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Amino Acid Metabolism, Inborn Errors / pathology*
  • Brain / pathology*
  • Diffusion
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Methylmalonic Acid / urine*

Substances

  • Methylmalonic Acid