Two cases of citrullinaemia presenting with stroke

J Inherit Metab Dis. 2006 Feb;29(1):182-3. doi: 10.1007/s10545-006-0194-2.

Abstract

Urea cycle disorders are known to be unusual causes of stroke. We report two infant cases of citrullinaemia that both initially presented with a stroke and suggest that urea cycle disorders should be included in the differential diagnosis of unexplained stroke during infancy and childhood.

Publication types

  • Case Reports

MeSH terms

  • Argininosuccinate Synthase / genetics
  • Brain / pathology
  • Citrullinemia / complications*
  • Citrullinemia / diagnosis*
  • Electroencephalography
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Mutation, Missense
  • Seizures
  • Stroke / complications*

Substances

  • Argininosuccinate Synthase