Boucher-Neuhauser Syndrome: A Case Report
S. Meral ÇINAR,1 Turgut KARAGÖL,1 Itır KUNTER,1 Müberra AKDOĞAN,2 Fazilet HIZ1
1Taksim Eğitim ve Araştırma Hastanesi Nöroloji Kliniği, İstanbul, Türkiye;
2Özel Gaziosmanpaşa Hastanesi Göz Hastalıkları Bölümü, İstanbul, Türkiye
Keywords: Ataxia; chorioretinal distrophy; hypogonadotropic hypogonadism.
Abstract
Boucher-Neuhauser syndrome was described by Boucher in 1969 and by Neuhauser in 1975. It is easy to diagnose Boucher-Neuhauser syndrome when the triad of hypogonadotropic hypogonadism, spinocerebellar ataxia and chorioretinal degeneration is present and the siblings are also affected. A 27-year-old male case was diagnosed with Boucher-Neuhauser syndrome by the triad of spinocerebellar ataxia, chorioretinal dystrophy and hypogonadotropic hypogonadism. In this article, we present this autosomal recessive syndrome since it is very rarely seen.