[以排尿障碍为首发表现的夏科-马里-图斯病合并脊髓空洞症]
[Charcot-Marie-Tooth disease associated with syringomyelia revealed by urinary disorders].
作者信息
Lassalle A, Durufle A, Le Tallec H, Laboute E, Kerdoncuff V, Plassat R, Gallien P
机构信息
Service médecine physique et réadaptation, CHU de Rennes, 2, rue Henri-le-Guilloux, 35000 Rennes, France.
出版信息
Ann Readapt Med Phys. 2005 Apr;48(3):146-9. doi: 10.1016/j.annrmp.2004.09.007.
PURPOSE
Charcot-Marie-Tooth (CMT) disease is characterized by genetic and clinical heterogeneity. The occurrence of urinary disorders is unusual and requires further investigation. CMT disease and syringomyelia are not usually associated. Moreover, primary urinary signs in syringomyelia are not frequent.
CASE REPORT
An 11-year-old girl with CMT disease 1A duplication presented with motor deficit of the leg associated with urinary disorders. Urodynamic study revealed neurogenic detrusor overactivity, and magnetic resonance imaging confirmed syringomyelia extending from T11 to an L1 located conus.
DISCUSSION
Review of the literature confirmed the possibility of primary urinary signs in syringomyelia, with only one case of CMT and urinary signs described. In this case, the diagnosis was radicullar and medullar compression by a hypertrophic nerve formation called an "onion bulb" reflecting the demyelinisation and remyelinisation cycle.
CONCLUSION
Urinary signs in CMT disease are exceptional and require investigation into the possibility of a central lesion.
目的
夏科-马里-图思（CMT）病具有遗传和临床异质性。泌尿系统疾病的发生并不常见，需要进一步研究。CMT病与脊髓空洞症通常不相关。此外，脊髓空洞症的原发性泌尿系统症状并不常见。
病例报告
一名患有CMT病1A型重复的11岁女孩出现腿部运动功能障碍并伴有泌尿系统疾病。尿动力学研究显示神经源性逼尿肌活动亢进，磁共振成像证实脊髓空洞症从T11延伸至位于L1的圆锥。
讨论
文献回顾证实了脊髓空洞症出现原发性泌尿系统症状的可能性，仅描述了1例CMT病合并泌尿系统症状的病例。在本病例中，诊断为一种称为“洋葱球”的肥厚性神经结构导致的神经根和脊髓受压，这反映了脱髓鞘和再髓鞘化周期。
结论
CMT病中的泌尿系统症状较为罕见，需要调查是否存在中枢性病变的可能性。
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