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

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.

• Authors: R Lefaucheur, A Triquenot-Bagan, M Quillard, O Genevois, D Hannequin
• Journal: Revue neurologique (Rev Neurol (Paris)) 2008 Aug-Sep Vol. 164 Issue 8-9 Pg. 728-32 ISSN: 0035-3787 [Print] France
• Vernacular Title: Infarctus cérébral et iridodonésis révélant une homocystinurie par mutation hétérozygote composite de la cystathionine bêta-synthase.
• PMID: 18805305 (Publication Type: Case Reports, English Abstract, Journal Article)

Topics

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