Department of Neurology, Sree Chitra Tirunal Institute For Medical Sciences And Technology, Trivandrum, Kerala 695011, India.
J Neurol Neurosurg Psychiatry. 2011 Aug;82(8):888-91. doi: 10.1136/jnnp.2009.196790. Epub 2010 Jun 28.
Boucher-Neuhäuser syndrome (BNS) is rare autosomal recessive disease, characterised by cerebellar ataxia, hypogonadotropic hypogonadism and chorio-retinal degeneration. The authors report a family (brother, 22 years and sister 24 years) with late-onset BNS (>10 years). They had subnormal intelligence; the cerebellar ataxia was progressive over 2 years with early functional dependence. Puberty was attained in a brother with testosterone injections, while the girl had primary amenorrhoea. There were no associated visual complaints. They both had diffuse periventricular white-matter hyperintensities in cerebral cortex and diffuse cerebellar atrophy in the MRI.
布谢尔-纽豪泽综合征（BNS）是一种罕见的常染色体隐性遗传病，其特征为小脑性共济失调、促性腺激素低下性性腺功能减退和脉络膜视网膜变性。作者报告了一个家族（哥哥 22 岁，妹妹 24 岁）患有迟发性 BNS（>10 年）。他们智力低下；小脑性共济失调在 2 年内逐渐加重，且早期功能依赖。哥哥通过睾丸激素注射来获得青春期，而女孩则原发性闭经。他们均无视力相关的主诉。MRI 显示他们均有弥漫性脑室周围白质高信号和弥漫性小脑萎缩。
