Hsieh Hsiang-Yao, Wu Tony, Wang Chao-Jan, Chin Shy-Chyi, Chen Yu-Ray
Section of Epilepsy, Department of Neurology, Chang Gung University and Memorial Hospital, Taipei, Taiwan.
Acta Neurol Taiwan. 2007 Jun;16(2):68-73.
To investigate the neurological complications and characteristics of intracranial lesions in patients with neurofibromatosis type 1 (NF1) in Taiwan.
Neurofibromtosis type 1 is a common autosomal dominant disorder characterized by cafe au lait spots, peripheral neurofibromas, Lisch nodules, and axillary freckling. Intracranial lesions such as optic gliomas and neurofibromatosis bright objects (NBOs) are common.
Patients with the diagnosis of NF1 based on criteria from the National Institutes of Health Consensus Conference (1988) between Jan. 1, 1983 and Oct. 30, 2005 were retrospectively evaluated at the Chung-Gung Memorial Hospital (CGMH). Case histories were analyzed for neurological complications of epilepsy, stroke, and pituitary as well as other intracranial lesions. Magnetic resonance imaging (MRI) examinations were also focused on the number, distribution, and change of NBOs as well as intracranial pathology including optic pathway or brain gliomas.
The study population included 69 patients (28 females and 41 males) mean 25.1 +/- 15.0 years. Brain MRIs for 24 patients identified 1 meningioma, 1 optic glioma, and 4 other intracranial gliomas. In total, 14 patients had 52 NBOs. The most common anatomical sites for the NBOs were the globus pallidus and thalamus (15.4%), followed by the cerebellum and subcortical white matter (11.5%). The most commoly identified neurological complications were epilepsy (8.7%) and cerebral infarction (7.2%). These complications, however, were not correlated with intracranial lesions.
Neurofibromatosis bright objects are frequent neuroimaging findings in patients with NF1, and are at high risk of transforming into tumors. The incidences of epilepsy and young-onset cerebral infarction in NF1 patients in this study are higher than those in the general population. Neuroimaging studies are thus essential for NF1 patients to determine the extent of neurological complications; although the imaging findings may not be completely correlated with the clinical manifestations.
探讨台湾1型神经纤维瘤病（NF1）患者的神经系统并发症及颅内病变特征。
1型神经纤维瘤病是一种常见的常染色体显性疾病，其特征为咖啡牛奶斑、周围神经纤维瘤、Lisch结节和腋窝雀斑。颅内病变如视神经胶质瘤和神经纤维瘤病明亮物体（NBOs）很常见。
回顾性评估1983年1月1日至2005年10月30日期间在中坜荣民总医院（CGMH）根据美国国立卫生研究院共识会议（1988年）标准诊断为NF1的患者。分析病历中的癫痫、中风和垂体以及其他颅内病变的神经系统并发症。磁共振成像（MRI）检查还聚焦于NBOs的数量、分布和变化以及包括视神经通路或脑胶质瘤在内的颅内病理情况。
研究人群包括69例患者（28例女性和41例男性），平均年龄25.1±15.0岁。24例患者的脑部MRI检查发现1例脑膜瘤、1例视神经胶质瘤和4例其他颅内胶质瘤。总共有14例患者有52个NBOs。NBOs最常见的解剖部位是苍白球和丘脑（15.4%），其次是小脑和皮质下白质（11.5%）。最常发现的神经系统并发症是癫痫（8.7%）和脑梗死（7.2%）。然而，这些并发症与颅内病变无关。
神经纤维瘤病明亮物体是NF1患者常见的神经影像学表现，且有转化为肿瘤的高风险。本研究中NF1患者癫痫和青年期脑梗死的发生率高于一般人群。因此，神经影像学研究对于NF1患者确定神经系统并发症的程度至关重要；尽管影像学表现可能与临床表现不完全相关。
