[Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase].
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.
Lefaucheur
R
R
Service de neurologie, CHU de Rouen, Rouen cedex, France. romain.lefaucheur@wanadoo.fr
Triquenot-Bagan
A
A
Quillard
M
M
Genevois
O
O
Hannequin
D
D
D000328:Adult; D001921:Brain / Q000473:pathology; D002545:Brain Ischemia / Q000150:complications / Q000209:etiology; D005260:Female; D006579:Heterozygote; D006712:Homocystinuria / Q000150:complications* / Q000235:genetics*; D006801:Humans; D007498:Iris / Q000473:pathology; D007499:Iris Diseases / Q000209:etiology* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D009154:Mutation / Q000502:physiology; D020521:Stroke / Q000209:etiology*