Kobayashi Fumikazu, Kurihara Yasushi, Nagasaka Kaori, Iida Haruyasu, Shindo Kazumasa, Takiyama Yoshihisa
Department of Neurology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi.
Rinsho Shinkeigaku. 2010 Feb;50(2):98-102. doi: 10.5692/clinicalneurol.50.98.
A 28-year-old man had experienced non-progressive gait disturbance since early childhood. He was admitted because of hypogonadism and cerebellar ataxia. On admission, bilateral vitelliform macular dystrophy, fixation nystagmus, slurred speech, cerebellar ataxia, decreased tendon reflexes, and pes cavus were present. Higher brain function, auditory function, and olfactory function were not disturbed. A gene abnormality related to known hereditary spinocerebellar degeneration and Kallman syndrome was not observed. Brain MRI demonstrated cerebellar atrophy. ECD-SPECT revealed decreased blood flow in the brain stem and cerebellum. Endocrinological tests indicated that the hypogonadism seemed to be due to a primary pituitary disturbance. This is the second case of Boucher-Neuhäuser syndrome in Japan.
一名28岁男性自幼儿期起就出现了非进行性步态障碍。他因性腺功能减退和小脑共济失调入院。入院时，存在双侧卵黄状黄斑营养不良、注视性眼球震颤、言语不清、小脑共济失调、腱反射减弱和高弓足。高级脑功能、听觉功能和嗅觉功能未受干扰。未观察到与已知遗传性脊髓小脑变性和卡尔曼综合征相关的基因异常。脑部MRI显示小脑萎缩。ECD-SPECT显示脑干和小脑血流减少。内分泌检查表明性腺功能减退似乎是由于原发性垂体功能障碍所致。这是日本第二例布歇-诺伊豪泽综合征病例。
