Autosomal recessive bilateral frontal polymicrogyria with ectopia lentis and chorioretinal dystrophy

• Main Authors: Javeria Nooraine, Kemmanu Vasudha, Sribhargava Natesh, Rajesh B Iyer, Seetharam Raghavendra
• Format: Article
• Language: English
• Published: Wolters Kluwer Medknow Publications 2013-01-01
• Series: Annals of Indian Academy of Neurology
• Subjects: Autosomal recessive; chorioretinal-dystrophy; ectopia lentis; frontal-polymicrogyria
• Online Access: http://www.annalsofian.org/article.asp?issn=0972-2327;year=2013;volume=16;issue=4;spage=678;epage=680;aulast=Nooraine

Polymicrogyria is a type of cortical dysplasia with cortical organizational defect. Bilateral polymicrogyria are distinct with genetic basis in a subset. We hereby report a case of bilateral frontal polymicrogyria (BFP) in association with chorioretinal dystrophy and ectopia lentis (EL) in a 26-year-old lady born of a consanguineous parentage. Her male sibling also had chorioretinal dystrophy and EL. This combination of autosomal recessive inheritance has not been reported earlier in the literature and suggests a role of connective tissue genes in BFP.