1型神经纤维瘤病合并高度活动性复发缓解型多发性硬化症（RRMS）。
Neurofibromatosis Type 1 with Highly Active Relapsing-Remitting Multiple Sclerosis (RRMS).
作者信息
Ciotti Silvia, Cometa Antonella, De Carlo Claudia, Martini Giancarlo, Marona Andrea, Filippetti Laura, Carducci Diego, Baratta Silvano, Zampolini Mauro, Corea Francesco
机构信息
USL Umbria 2, Department of Rehabilitation, S.C.R.I.N. Trevi, Italy.
USL Umbria 2, Department of Rehabilitation, S.M. Stella, Orvieto, Italy.
出版信息
Eur J Case Rep Intern Med. 2021 Feb 3;8(3):002190. doi: 10.12890/2021_002190. eCollection 2021.
UNLABELLED
Neurofibromatosis type 1 (NF1) is an autosomal dominant neurocutaneous disease which confers an increased risk of malignant tumour development. Relapsing remitting multiple sclerosis (RRMS) is an inflammatory demyelinating disease of the central nervous system. The coexistence of multiple sclerosis and NF1 is rare but has been reported. Here, we describe the case of a 31-year-old man with NF1 and subacute walking problems with proximal pain in the lower limbs who was successfully treated with natalizumab.
LEARNING POINTS
The coexistence of multiple sclerosis (MS) and neurofibromatosis type 1 (NF1) is very rare but has been described in the literature.Follow-up of patients with NF1 is important as the early detection and management of MS can prevent further disability.Appropriate treatment and physical therapy can improve the patient's activity and social life.
未标注
1型神经纤维瘤病（NF1）是一种常染色体显性遗传的神经皮肤疾病，会增加恶性肿瘤发生的风险。复发缓解型多发性硬化症（RRMS）是一种中枢神经系统的炎性脱髓鞘疾病。多发性硬化症与NF1并存的情况较为罕见，但已有报道。在此，我们描述了一名31岁患有NF1的男性病例，其出现亚急性行走问题并伴有下肢近端疼痛，使用那他珠单抗治疗成功。
学习要点
多发性硬化症（MS）与1型神经纤维瘤病（NF1）并存的情况非常罕见，但文献中已有描述。对NF1患者进行随访很重要，因为早期发现和治疗MS可预防进一步的残疾。适当的治疗和物理治疗可改善患者的活动能力和社交生活。
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