Acıbadem Üniversitesi Sağlık Bilimleri Dergisi 2019 , Vol 10, Issue 2
A Rare Cause of Mental Retardation and Retinitis Pigmentosa: Laurence Moon Bardet Biedl Syndrome
Serkan Kırık1,Olcay Güngör1,Yasemin Kırık2
1Sütçü İmam Üniversitesi, Çocuk Nöroloji, Kahramanmaraş, Türkiye
2Necip Fazıl Şehir Hastanesi, Enfeksiyon Hastalıkları ve Klinik Mikrobiyoloji, Kahramanmaraş, Türkiye
DOI : 10.31067/0.2019.153 Laurence Moon Bardet Biedl syndrome is a rare, autosomal recessive disorder. Patients present with obesity, renal abnormalities, visual abnormalities, hypogonadism and mental retardation. In this case report, a 11-year-old male patient presented with absence of perception and retinitis pigmentosa who was diagnosed with Laurence Moon Bardet Biedl Syndrome. It was noted that one of the rare causes of mental retardation and retinitis pigmentosa is Bardet Biedl syndrome. Keywords : Bardet Biedl syndrome, mental retardation, retinitis pigmentosa