Pacelli James, Whitaker Charles H
Department of Neurology, University of Connecticut Health Center, 263 Farmington Avenue, Farmington, Connecticut 06030, USA.
Muscle Nerve. 2006 May;33(5):697-700. doi: 10.1002/mus.20486.
Neurofibromatosis type 1 (NF1) is a common tumor predisposition syndrome affecting approximately 1 in 4,000 persons. It is an autosomal-dominant disorder with half of the cases resulting from spontaneous mutations. This genetic defect leads to the formation of benign tumors or neurofibromas of the peripheral nervous system. Dermal neurofibromas may cause local discomfort and itching but are rarely associated with neurological deficit and do not undergo malignant change. The more extensive plexiform neurofibromas produce neurological complications in 27%-43% of patients with NF1 and may undergo malignant degeneration in 5% of cases. Patients with NF1 who develop pain or new neurological symptoms should have a rapid and thorough assessment for malignancy. In this report, we illustrate this point by presenting a patient who developed acute shoulder pain and weakness due to malignant degeneration of a plexiform neurofibroma involving the left brachial plexus, and review the literature on this subject.
1型神经纤维瘤病（NF1）是一种常见的肿瘤易感综合征，每4000人中约有1人受其影响。它是一种常染色体显性疾病，半数病例由自发突变引起。这种基因缺陷会导致外周神经系统形成良性肿瘤或神经纤维瘤。皮肤神经纤维瘤可能会引起局部不适和瘙痒，但很少与神经功能缺损相关，也不会发生恶变。范围更广的丛状神经纤维瘤在27%-43%的NF1患者中会引发神经并发症，5%的病例可能会发生恶性变。出现疼痛或新的神经症状的NF1患者应迅速接受全面的恶性病变评估。在本报告中，我们通过介绍一名因累及左臂丛神经的丛状神经纤维瘤恶性变而出现急性肩部疼痛和无力的患者来说明这一点，并回顾关于该主题的文献。
