Roos K L, Pascuzzi R M, Dunn D W
Department of Neurology, Indiana University School of Medicine, Indianapolis.
Neurofibromatosis. 1989;2(4):238-43.
The simultaneous occurrence of neurofibromatosis and a peripheral neuropathy that has the clinical and electrophysiological features of Charcot-Marie-Tooth disease (HMSN I) has rarely been reported. A recent report described patients with HMSN I with hypertrophic lumbosacral nerve roots. We report a patient with compelling evidence for neurofibromatosis who also demonstrates clinical and electrophysiological features of Charcot-Marie-Tooth disease. Abdominal and pelvic CT scan revealed diffusely and symmetrically enlarged lumbosacral nerve roots. These nerve roots were biopsied, and the specimens revealed neurofibromas. Histology, electrophysiological studies, radiology, and clinical appearance of the abnormality in peripheral nerves and lumbosacral nerve roots will be emphasized in this paper. The simultaneous occurrence in our patient of neurofibromatosis and Charcot-Marie-Tooth disease suggests a possible genetic relationship between these two disorders.
神经纤维瘤病与具有夏科-马里-图斯病（遗传性运动感觉神经病I型）临床及电生理特征的周围神经病同时出现的情况鲜有报道。最近有一篇报告描述了患有遗传性运动感觉神经病I型且腰骶神经根肥厚的患者。我们报告了一名有确凿神经纤维瘤病证据且同时具有夏科-马里-图斯病临床及电生理特征的患者。腹部和盆腔CT扫描显示腰骶神经根弥漫性、对称性增粗。对这些神经根进行了活检，标本显示为神经纤维瘤。本文将重点阐述周围神经和腰骶神经根异常的组织学、电生理研究、放射学及临床表现。我们的患者中神经纤维瘤病与夏科-马里-图斯病的同时出现提示这两种疾病之间可能存在遗传关系。
