Tanaka Y, Tsuda M, Miyazaki M, Kuzuhara S
Department of Neurology, Yamada Red Cross Hospital.
Rinsho Shinkeigaku. 1991 Mar;31(3):318-20.
We report cystinuria and symptoms of cerebellar atrophy in a 45-year-old man. His parents were first cousins, and many members of his family had stones of urinary tract or gait impairment. Neurological examination disclosed cerebellar signs resembling those of spinocerebellar degeneration. Urinalysis disclosed high cystine, lysine, ornitine and arginine output. Cystine was 1153.8 micro mol/day (normal range, 22-170); lysine, 3443.9 (normal range, 44-1000); ornitine, 283.8 (normal range, 7-40); and arginine, 154.0 (normal range, 9-50). Neurological complications reported to be associated with cystinuria include mental retardation, muscular dystrophy, hypotonia and dwarfism, mongolism, paroxysmal dyskinesia, myopathy, migraine, spastic paraplegia, multiple sclerosis, subacute combined degeneration and cranial polyneuropathy. Cerebellar signs have been reported in only two cases, and to our knowledge, this is the first case of cystinuria with cerebellar atrophy ever reported. Some common metabolic errors may have caused both disorders, although they also may have developed independently.
我们报告了一名45岁男性的胱氨酸尿症及小脑萎缩症状。他的父母是近亲，其家族中的许多成员患有尿路结石或步态障碍。神经学检查发现了类似脊髓小脑变性的小脑体征。尿液分析显示胱氨酸、赖氨酸、鸟氨酸和精氨酸排出量升高。胱氨酸为1153.8微摩尔/天（正常范围为22 - 170）；赖氨酸为3443.9（正常范围为44 - 1000）；鸟氨酸为283.8（正常范围为7 - 40）；精氨酸为154.0（正常范围为9 - 50）。据报道，与胱氨酸尿症相关的神经学并发症包括智力迟钝、肌肉萎缩症、肌张力减退和侏儒症、唐氏综合征、发作性运动障碍、肌病、偏头痛、痉挛性截瘫、多发性硬化症、亚急性联合变性和颅神经多神经病。仅在两例中报告过小脑体征，据我们所知，这是首例报告的伴有小脑萎缩的胱氨酸尿症病例。一些常见的代谢错误可能导致了这两种病症，尽管它们也可能是独立发生的。
