Neurological complications of neurofibromatosis type 1 in adulthood
Neurological complications of neurofibromatosis type 1 in adulthood
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DOI：
10.1093/brain/122.3.473
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发表时间：
1999-03-01
期刊：
影响因子：
14.5
通讯作者：
Wolkenstein, P
中科院分区：
文献类型：
--
作者：
Créange, A;Zeller, J;Wolkenstein, P
1型神经纤维瘤病（NF1）是一种具有广泛神经系统表现的遗传性疾病。为了检验这些，并评估成年期NF1患者的神经系统发病率，我们研究了以医院为基础的158例患者，其中包括138例年龄在18岁至18岁之间的成人患者和20例儿童。NF1评估包括多学科临床和临床导向的放射学调查，记录儿童期（该系列的儿童和成人）和成年期发生的神经事件。在55%的患者（成人和儿童）（n = 87）中观察到一种或几种神经学表现，包括：头痛（28例）；脑积水(7);癫痫(5);腔隙性卒中(1)；白质病(1)；脊柱内神经纤维瘤（3例）；面瘫1例；神经根病(5);肿瘤包括：视神经通路肿瘤（20）；脑膜瘤(2);脑胶质瘤(3)；恶性周围神经鞘肿瘤(6)，5例成人出现危及生命的并发症，包括4例恶性周围神经鞘谣言和1例脑膜瘤，11例成人的主要症状为疼痛，与恶性周围神经鞘谣言、椎内神经纤维瘤、皮下神经纤维瘤和周围神经纤维瘤的并发症有关。成人NF1与其他致残或危及生命的神经系统并发症无关。症状性视神经通路谣言、脑胶质瘤、症状性导水管狭窄和椎管内NF引起的脊柱压迫仅在儿童时期观察到。在这个系列中，成人NF1的主要神经学特征是慢性疼痛和恶性周围神经鞘肿瘤。
Neurofibromatosis type 1 (NF1) is a genetic disease with a wide range of neurological manifestations. To examine these, and to evaluate neurological morbidity in adulthood of patients with NF1, we studied a hospital-based series of 158 patients that included 138 adult patients aged >18 years and 20 children. NF1 evaluation included a multidisciplinary clinical and a clinically oriented radiological investigation, Neurological events occurring during childhood (in both children and adults of the series) and adulthood were recorded. One or several neurological manifestations have been observed in 55% of patients (adults and children) (n = 87), These included: headache (28 patients); hydrocephalus (7); epilepsy (5); lacunar stroke (1); white matter disease (1); intraspinal neurofibroma (3); facial palsy (1); radiculopathy (5); and polyneuropathy (2), Tumours included: optic pathway tumours(20); meningioma (2); cerebral glioma (3); and malignant peripheral nerve sheath tumours (6), Life-threatening complications were observed in five adults and included four malignant peripheral nerve sheath rumours and one meningioma, Pain was the leading symptom in 11 adults and was related to malignant peripheral nerve sheath rumours, complications of intraspinal neurofibromas, subcutaneous neurofibromas and peripheral nerve neurofibromas. NF1 in adults was not associated with other disabling or life-threatening neurological complications. Symptomatic optic pathway rumours, cerebral gliomas, symptomatic aqueductal stenosis and spinal compression due to intraspinal NF were observed exclusively during childhood. In this series, the predominant neurological features of adults with NF1 were chronic pain and malignant peripheral nerve sheath tumours.