Acute hemiparesis as the presenting sign in a heterozygote for ornithine transcarbamylase deficiency

Neuropediatrics. 1990 Aug;21(3):133-5. doi: 10.1055/s-2008-1071479.

Abstract

Strokes in children occur in conjunction with cardiac disease, hematological disorders, trauma, intracranial infections and migraine. Recently several inborn errors of metabolism have been recognized as possible causes of stroke-like symptoms. We describe a female heterozygote of ornithine transcarbamylase deficiency, who presented with convulsions and right sided hemiplegia. MR-imaging of the brain demonstrated an acute ischemic lesion in the left hemisphere. In addition to other known metabolic causes of stroke like attacks urea cycle defects should be considered in the differential diagnosis of acute hemiplegia in childhood.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Metabolism, Inborn Errors / genetics*
  • Ammonia / blood
  • Brain Damage, Chronic / genetics
  • Cerebral Cortex / pathology
  • Cerebrovascular Disorders / genetics*
  • Female
  • Genetic Carrier Screening*
  • Hemiplegia / genetics*
  • Humans
  • Infant
  • Liver / enzymology
  • Magnetic Resonance Imaging
  • Ornithine Carbamoyltransferase / genetics*

Substances

  • Ammonia
  • Ornithine Carbamoyltransferase