Filling-Katz M R, Choyke P L, Oldfield E, Charnas L, Patronas N J, Glenn G M, Gorin M B, Morgan J K, Linehan W M, Seizinger B R
Department of Ophthalmology, University of Louisville, KY.
Neurology. 1991 Jan;41(1):41-6. doi: 10.1212/wnl.41.1.41.
Fifty individuals with Von Hippel-Lindau disease (VHL) were studied with gadolinium-enhanced magnetic resonance imaging (MRI) to determine the frequency and distribution of CNS lesions. The associated clinical features were also reviewed. Thirty-six (72%) of the 50 had 1 or more CNS tumors. The most frequently affected sites in the CNS excluding the retina were the cerebellum (52%), spinal cord (44%), and brainstem (18%). New regional predilections for the craniocervical junction and conus medullaris were demonstrated by this study. Forty-one percent of all VHL patients with CNS tumors were neurologically asymptomatic: cerebellar tumors (50%), spinal cord tumors (50%), and brainstem tumors (44%) were often without clinical signs or symptoms. Multiple lesions were common. The mean age of all VHL patients (34.5 years) was similar to the mean age of all CNS VHL patients (34.4 years), suggesting a lack of age association. CNS lesions commonly occurred in the 2nd decade of life. All patients at risk for VHL should be evaluated using gadolinium-enhanced MRI after 10 years of age, although ophthalmic examination should be initiated within the 1st 2 years of life. Enhanced MRI is particularly useful in the detection of CNS tumors in patients with the VHL gene.
对50例患有冯·希佩尔-林道病（VHL）的患者进行了钆增强磁共振成像（MRI）检查，以确定中枢神经系统（CNS）病变的频率和分布。同时回顾了相关的临床特征。50例患者中有36例（72%）患有1个或更多的CNS肿瘤。中枢神经系统中除视网膜外最常受累的部位是小脑（52%）、脊髓（44%）和脑干（18%）。本研究显示了颅颈交界区和脊髓圆锥新的区域偏好性。所有患有CNS肿瘤的VHL患者中有41%没有神经症状：小脑肿瘤（50%）、脊髓肿瘤（50%）和脑干肿瘤（44%）通常没有临床体征或症状。多发病变很常见。所有VHL患者的平均年龄（34.5岁）与所有患有CNS病变的VHL患者的平均年龄（34.4岁）相似，表明与年龄无关。CNS病变常见于生命的第二个十年。所有有VHL风险的患者在10岁后应使用钆增强MRI进行评估，尽管眼科检查应在生命的头2年内开始。增强MRI在检测携带VHL基因的患者的CNS肿瘤方面特别有用。
