Aganglionik Megakolon Anomalisi Görülen Bir Laurence Moon Bardet Bield Sendromu Vakası

Laurence Moon Bardet Biedl syndrome is characterized by retinitis pigmentosa, obesity, mental retardation, Polydactyly and hypogenitalism. A seven-year -old boy was referred to the pediatric department because mental retardation. He had been operated because aganglionic megacolon and lateral extra digits on 15 months old. Physical examination showed obesity, mental retardation, hypogenitalism and left undescended testes. Oph-thalmoscopy revealed retinitis pigmentosa. Periodic follow-up was begun and genetic counselling was advised to family. The case was discussed according to the literature. Laurence Moon Bardet Biedl sendromu otozomal resesif gecisli, polidaktili, higogenitalizm, obesite, gorme bozuklugu ve mental retardasyon ile karakterize bir sendromdur. Nadir rastlanmasi nedeniyle aganglionik megakolon anomalisi gorulen Laurence Moon Bardet Biedl Sendromlu bir vakayi sunduk. Yedi yasindaki erkek cocuk onbes aylikken konjenital aganglionik megakolon nedeniyle opere edilmisti. Fizik muayenede; obesite, mental retardasyon, hipogenitalizm, sol inmemis testis ve her iki ayakta opere edilmis la¬teral polidaktiliye ait skar dokusu bulundu. Oflalmoskopik muayenede retinitis pigmen¬tosa saptandi. Hasta periyodik takibe alinarak aileye genetik danisma verildi. Vaka lite¬ratur isiginda tartisildi.