Créange A, Zeller J, Rostaing-Rigattieri S, Brugières P, Degos J D, Revuz J, Wolkenstein P
Service de Neurologie, CHU Henri Mondor, Université Paris XII, Créteil, France.
Brain. 1999 Mar;122 ( Pt 3):473-81. doi: 10.1093/brain/122.3.473.
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 tumours and one meningioma. Pain was the leading symptom in 11 adults and was related to malignant peripheral nerve sheath tumours, 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 tumours, 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.
1型神经纤维瘤病（NF1）是一种具有广泛神经学表现的遗传性疾病。为了研究这些表现，并评估NF1患者成年期的神经疾病发病率，我们对一家医院的158例患者进行了研究，其中包括138例年龄大于18岁的成年患者和20例儿童。NF1评估包括多学科临床检查和以临床为导向的放射学检查。记录了儿童期（该系列中的儿童和成人）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。这些表现包括：头痛（28例患者）；脑积水（7例）；癫痫（5例）；腔隙性卒中（1例）；白质病（1例）；脊髓内神经纤维瘤（3例）；面神经麻痹（1例）；神经根病（5例）；以及多发性神经病（2例）。肿瘤包括：视路肿瘤（20例）；脑膜瘤（2例）；脑胶质瘤（3例）；以及恶性外周神经鞘瘤（6例）。在5名成人中观察到危及生命的并发症，包括4例恶性外周神经鞘瘤和1例脑膜瘤。疼痛是11名成人的主要症状，与恶性外周神经鞘瘤、脊髓内神经纤维瘤、皮下神经纤维瘤和外周神经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并发症无关。有症状的视路肿瘤、脑胶质瘤、有症状的导水管狭窄和脊髓内NF引起的脊髓压迫仅在儿童期观察到。在该系列中，成年NF1患者的主要神经学特征是慢性疼痛和恶性外周神经鞘瘤。
