BARDET BIEDL SYNDROME PRESENTING WITH RETINITIS PIGMENTOSA AND SEIZURES: A RARE CASE REPORT
*Kodandaraman Thoti, Madhavi V., Eswari P.V.S.N. and Lakshmi P.
ABSTRACT
Bardet biedl syndrome (BBS) is a rare, genetic disorder with involvement of multiple systems and wide spectrum of clinical features. It is also known as Laurence Moon Syndrome (LMS). Principal hallmark of Bardet Biedl Syndrome are red cone dystrophy, obesity, polydactyl, hypogonadism, mental retardation and renal dysfunction. Consanguineous marriage is usually the common cause. Bardet biedl syndrome is inherited mostly as an autosomal recessive trait. It affects males and females evenly. Treatment of Bardet biedl syndrome is directed towards the specific symptoms that are discernible in each individual. We present a case of 35 years male patient with Bardet Biedl Syndrome presenting in medicine department with seizures, moon shaped face, learning difficulties, polydactyly of upper and lower limbs and retinitis pigmentosa. Had a history of Hypertension, Diabetes mellitus and night blindness since childhood. Therefore it is an typical and interesting case report and then the literature is reviewed.
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