Onu David O, Hunn Andrew W, Peters-Willke Jens
Department of Neurosurgery, Royal Hobart Hospital, Hobart, Tasmania, Australia.
BMJ Case Rep. 2013 Jul 13;2013:bcr2013010078. doi: 10.1136/bcr-2013-010078.
The coexistence of polyneuropathy which has the definite clinical and electromyographical findings consistent with Charcot-Marie-Tooth (CMT) syndrome and neurofibromatosis type 1 (NF1) has infrequently been reported. We describe a patient with both CMT and NF1, who had multiple neurofibromas involving the entire spinal neural axis. In addition, he had multiple neurofibromas distributed within the ileopsoas and gluteus muscles and subcutaneous tissues. These lesions were detected readily by MRI and the patient underwent successful surgical resection of the largest tumours compressing bilateral C2 nerve roots. To our knowledge, this is the first reported case of CMT syndrome coexisting with NF1 in which multiple neurofibromas involved the entire spinal nerve roots. We discuss the diagnostic and therapeutic challenges, emphasising the role of MRI and electrophysiology in such cases and provide a literature review.
具有明确临床和肌电图表现且与夏科-马里-图斯（CMT）综合征相符的多发性神经病与1型神经纤维瘤病（NF1）并存的情况鲜有报道。我们描述了一名同时患有CMT和NF1的患者，其多个神经纤维瘤累及整个脊髓神经轴。此外，他的髂腰肌、臀肌和皮下组织内也分布有多个神经纤维瘤。这些病变通过磁共振成像（MRI）很容易被检测到，并且患者成功接受了手术切除压迫双侧C2神经根的最大肿瘤。据我们所知，这是首例报道的CMT综合征与NF1并存且多个神经纤维瘤累及整个脊神经根的病例。我们讨论了诊断和治疗方面的挑战，强调了MRI和电生理学在此类病例中的作用，并提供了文献综述。
