Hamann G, Zankl M, Schimrigk K, Kloss R
Department of Neurology, University of the Saarland, Homburg/Saar, Germany.
J Med Genet. 1992 Jul;29(7):494-6.
We describe a 37 year old man with a history of a gait disorder which had been worsening over a period of three years. Clinical examination showed the typical signs of a spastic tetraparesis with increased tone of all the extremities. Sensation, autonomic and cerebellar functions were not disturbed. Multiple exostoses had been present since early childhood, but none had been found in the spine or the cranium to cause the tetraspastic disorder. MRI scan was normal. Pedigree analysis of four generations showed that other family members were affected by both disorders. Chromosomal analysis was normal. We consider this to be a previously unknown hereditary syndrome transmitted as an autosomal dominant and manifesting a combination of spastic tetraparesis and multiple exostoses.
我们描述了一名37岁男性，他有步态障碍病史，在三年时间里病情逐渐加重。临床检查显示典型的痉挛性四肢瘫体征，四肢肌张力增加。感觉、自主神经和小脑功能未受干扰。自幼年起就存在多发性外生骨疣，但在脊柱或颅骨中未发现任何可导致四肢痉挛性疾病的病变。磁共振成像扫描结果正常。对四代家族成员的系谱分析表明，其他家族成员也患有这两种疾病。染色体分析正常。我们认为这是一种以前未知的遗传性综合征，以常染色体显性方式遗传，表现为痉挛性四肢瘫和多发性外生骨疣的组合。
