Trivedi R, Byrne J, Huson S M, Donaghy M
Department of Neurology, Radcliffe Infirmary, University of Oxford, Oxford OX2 6HE, UK.
J Neurol Neurosurg Psychiatry. 2000 Aug;69(2):257-61. doi: 10.1136/jnnp.69.2.257.
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterised by bilateral vestibular schwannomas and other CNS tumours including meningiomas and spinal schwannomas. Occasionally, peripheral neuropathy occurs in these patients but this is the first report of focal amyotrophy. Clinical, electrophysiological, and imaging data from four NF2 patients seen at a specialist neurofibromatosis clinic over a 4 year period are described in whom symptomatic focal amyotrophy preceded the diagnosis of NF2. Two presented with wasting and weakness of a single muscle group, several years before NF2 was diagnosed. In one patient a mononeuritis multiplex was the presenting feature of NF2, and in one patient focal wasting and weakness developed after the diagnosis of NF2 was made. In none of the four cases could a focal peripheral nerve or root neurofibroma be identified despite extensive imaging with MRI, and the limitations of neuroimaging for identifying a structural cause in patients with NF2 with a focal peripheral nerve lesion is discussed. It is likely that NF2 may affect peripheral nerve structures in a manner distinct from a compressive schwannoma.
2型神经纤维瘤病（NF2）是一种常染色体显性疾病，其特征为双侧前庭神经鞘瘤以及包括脑膜瘤和脊髓神经鞘瘤在内的其他中枢神经系统肿瘤。这些患者偶尔会出现周围神经病变，但局灶性肌萎缩的报道尚属首次。本文描述了在一家专业神经纤维瘤病诊所4年间接诊的4例NF2患者的临床、电生理和影像学资料，这些患者在NF2诊断之前出现了有症状的局灶性肌萎缩。其中2例在NF2确诊前数年就出现了单一肌肉群的萎缩和无力。1例患者以多发性单神经炎作为NF2的首发症状，1例患者在NF2诊断后出现了局灶性萎缩和无力。尽管进行了广泛的MRI检查，但在这4例患者中均未发现局灶性周围神经或神经根神经纤维瘤，文中还讨论了神经影像学在识别伴有局灶性周围神经病变的NF2患者结构病因方面的局限性。NF2可能以一种不同于压迫性神经鞘瘤的方式影响周围神经结构。
