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- R Lefaucheur, A Triquenot-Bagan, M Quillard, O Genevois, and D Hannequin.
- Service de neurologie, CHU de Rouen, Rouen cedex, France. romain.lefaucheur@wanadoo.fr
- Rev Neurol France. 2008 Aug 1; 164 (8-9): 728-32.
AbstractIridodonesis 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.
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