Laurence Moon Bardet Biedl Syndrome: A Rare Case Report in a Tertiary Care Teaching Hospital, Aurangabad, Maharashtra

Anup Latne, Pramod Wattamwar, Mahesh Thakare

Abstract: Laurence Moon Bardet Beidl Syndrome is a rare Ciliopathic and Pleiotrophic human Autosomal recessive genetic disorder, which involves affects and effects on multiple organ system. Consanguineous marriage is usually the common cause. The characteristic feature of the disorder are progressive rod cone dystrophy, atypical retinitis Pigmentosa, myopia, central obesity, mental retardation, Anisometropia, Astigmatism, Postaxial Polydactyly, Hypogonadism in males, renal involvement. It affects males and females equally. The treatment of Laurence Moon Bardet Beidl Syndrome is usually directed towards the specific symptoms that are apparent in each individual. We here present a case report of 30 year old male patient presenting in medicine department with uncontrolled blood sugar levels, morbid obesity, progressive loss of vision and polydactyly.

Keywords: Obesity, Hypogonadism, Retinitis Pigmentosa, Para paresis, Mental retardation, rod cone dystrophy