Department of Neurosciences and Behavior Sciences, School of Medicine of Ribeirão Preto, University of São Paulo, SP 14049-900, Brazil.
Muscle Nerve. 2010 Oct;42(4):598-600. doi: 10.1002/mus.21753.
We report an 18-month-old Charcot-Marie-Tooth type 1A (CMT1A) patient who developed a rapid-onset neuropathy, with proximal and distal weakness, and non-uniform nerve conduction studies. The neuropathy responded well to immunomodulation, confirming the coexistence of an inherited and an inflammatory neuropathy. Unexpected clinical and/or electrophysiological manifestations in CMT1A patients should alert clinicians to concomitant inflammatory neuropathy. In addition, this association raises reflections about disease mechanism in CMT1A.
我们报告了一例 18 个月大的腓骨肌萎缩症 1A 型（CMT1A）患者，其出现了快速发作的多发性神经病，表现为近端和远端无力以及非均一性神经传导研究。该神经病对免疫调节反应良好，证实了遗传性和炎症性神经病的并存。CMT1A 患者出现意外的临床和/或电生理表现时，应提醒临床医生注意同时存在炎症性神经病。此外，这种关联引发了对 CMT1A 疾病机制的思考。
