Neurofibromatous neuropathy in neurofibromatosis 1 (NF1)
Neurofibromatous neuropathy in neurofibromatosis 1 (NF1)
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DOI：
10.1136/jmg.2004.021683
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发表时间：
2004-11-01
影响因子：
4
通讯作者：
Johnson, MR
中科院分区：
文献类型：
--
作者：
Ferner, RE;Hughes, RAC;Johnson, MR
背景：神经纤维瘤病1(NF1)是一种常见的常染色体显性遗传性神经皮肤病，在临床和遗传学上不同于罕见的神经纤维瘤病2(NF2)。神经纤维瘤性神经病一直被认为是NF2的共同特征，但它是NF1的一种罕见且无法解释的并发症。NF1神经病的临床和组织学特征与NF2不同。我们描述了8例对称性多发性神经病，被称为神经纤维瘤性神经病。方法：对8例神经纤维瘤性神经病患者进行临床评估、实验室检查、神经影像和神经生理学检查。没有人因为神经病症状而被转介。两名受试者接受了腓肠神经活检，三名患者同意进行突变分析。结果：患者有一种以感觉性轴索为主的惰性对称性神经病，并异常早期出现大量神经纤维瘤。活检的神经显示弥漫性神经纤维瘤改变和神经膜断裂。2例患者发展为高度恶性周围神经鞘膜瘤。在两个个体中检测到致病突变，分子研究没有发现任何全基因缺失。结论：在600例NF1患者中，1.3%发生了神经纤维瘤性神经病。其原因可能是雪旺细胞、成纤维细胞和神经周细胞之间不适当的信号传递引起的弥漫性神经病变过程。
Background: Neurofibromatosis 1 (NF1) is a common, autosomal dominant, neurocutaneous disease that is clinically and genetically distinct from the rare condition neurofibromatosis 2 (NF2). Neurofibromatous neuropathy has been regarded as a common feature of NF2, but is an unusual and unexplained complication of NF1. The clinical and histological features of the NF1 neuropathy are distinct from those encountered in NF2. We describe eight patients with a symmetrical polyneuropathy, which has been called neurofibromatous neuropathyMethods: Clinical assessments, laboratory investigations, neuroimaging, and neurophysiology were undertaken in eight individuals with neurofibromatous neuropathy. None were referred because of neuropathic symptoms. Two subjects underwent sural nerve biopsy and three agreed to mutational analysis.Results: The patients had an indolent symmetrical predominantly sensory axonal neuropathy and unusually early development of large numbers of neurofibromas. The biopsied nerves showed diffuse neurofibromatous change and disruption of the perineurium. Two patients developed a high grade malignant peripheral nerve sheath tumour. Disease causing mutations were detected in two individuals and molecular studies did not reveal any whole gene deletions.Conclusions: Neurofibromatous neuropathy occurred in 1.3% of 600 patients with NF1. Its cause may be a diffuse neuropathic process arising from inappropriate signalling between Schwann cells, fibroblasts, and perineurial cells.