Aksu F, Christen H J, Hanefeld F
Klin Padiatr. 1986 Mar-Apr;198(2):114-8. doi: 10.1055/s-2008-1026864.
The Roussy-Lévy-Syndrome ist generally considered a pheno-typic variant of the hereditary motor and sensory neuropathy type I (HMSN I), i.e. the classic Charcot-Marie-Tooth-neuropathy, and is thus nosographically distinguishable from Friedreich's ataxia. While posterior column symptomatology, dementia and rapid progression are recognized as diagnostic criteria for Friedreich's ataxia and HMSN I is clinically defined by the typical features of a progressive polyneuropathy, the symptom triad "gait disturbance, areflexia and pes cavus" of the Roussy-Lévy-Syndrome has comparatively little diagnostic specifity. Because of the variability of clinical symptoms as shown by two case reports, the diagnosis of Roussy-Lévy-Syndrome in childhood should be made only with great caution. For early genetic counselling and prognostic evaluation, bioptic and neurophysiologic results are of decisive importance.
鲁西-列维综合征通常被认为是遗传性运动和感觉神经病I型（HMSN I）的一种表型变异，即经典的夏科-马里-图思神经病，因此在疾病分类学上可与弗里德赖希共济失调区分开来。虽然后索症状、痴呆和快速进展被认为是弗里德赖希共济失调的诊断标准，而HMSN I在临床上由进行性多发性神经病的典型特征定义，但鲁西-列维综合征的症状三联征“步态障碍、反射消失和高弓足”的诊断特异性相对较低。由于两例病例报告所示临床症状的变异性，儿童期鲁西-列维综合征的诊断应极为谨慎。对于早期遗传咨询和预后评估，活检和神经生理学结果具有决定性意义。
