[Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase]

Rev Neurol (Paris). 2008 Aug-Sep;164(8-9):728-32. doi: 10.1016/j.neurol.2007.12.004. Epub 2008 Jun 26.
[Article in French]

Abstract

Iridodonesis or tremulous iris is a clinical sign of ectopia lentis which is frequently associated with homocystinuria. We present a forty-two-year-old woman victim of a left middle cerebral artery ischemic stroke. The clinical examination found bilateral iridodonesis and laboratory tests showed an increased level of serum homocysteine and homocystinuria. Homocystinuria was caused by a compound heterozygous I278T and D444N mutation of cystathionine beta-synthase (CBS) gene and also a C667T heterozygous polymorphism of methylene-tetrahydrofolate-reductase gene. This case was atypical because of the incomplete phenotype, development of complications in adulthood and the association of a rare compound heterozygous mutation of the CBS gene.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Brain / pathology
  • Brain Ischemia / complications
  • Brain Ischemia / etiology
  • Female
  • Heterozygote
  • Homocystinuria / complications*
  • Homocystinuria / genetics*
  • Humans
  • Iris / pathology
  • Iris Diseases / etiology*
  • Iris Diseases / genetics*
  • Magnetic Resonance Imaging
  • Mutation / physiology
  • Stroke / etiology*