Türk Nöroşirürji Dergisi 2012 , Vol 22 , Num 1
Paraparesis Results from Spinal Stenosis in Laurence-Moon-Bardet-Biedl Syndrome: Case Report
Tanju UÇAR1, Umut Ogün MUTLUCAN1, Ethem GÖKSU1, Şükran TAÇOY2, Saim KAZAN1, Sibel ÇUBUKÇU FIRAT3
1Akdeniz Üniversitesi, Tıp Fakültesi, Nöroşirüji Anabilim Dalı, Antalya, Türkiye
2Akdeniz Üniversitesi, Tıp Fakültesi, Çocuk Genetik Bilim Dalı, Antalya, Türkiye
3Akdeniz Üniversitesi, Tıp Fakültesi, Fiziksel Tıp ve Rehabilitasyon Anabilim Dalı, Antalya, Türkiye
Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is an autosomal recessive genetic condition characterized with, trunkal obesity, mental retardation, hypogonadism dysmorphic extremities (polydactilia), rod-cone dystrophy (sometimes called atypical retinitis pigmentosa), renal dysfunction and complex female genito-uriner system malformations. Mostly ıt may announced under the name of Bardet-Biedl Syndrome (BBS). But when linvestigate in details ıt may differentiate from BBS with spesific clinical signs and symptoms. Spinal stenosis and paresis of the extremities are one of the rare and late complication of this complex syndrome.In this report we are presenting a case of LMBBS whose prominent neurological features paraparesis that depends spinal canal stenosis.Paraparesis improved after the surgical decompression. Anahtar Kelimeler : Laurence-Moon Bardet-Biedl, Spinal stenosis, Paraparesis