Ferner R E, Chaudhuri R, Bingham J, Cox T, Hughes R A
Department of Neurology, UMDS, Guy's Hospital, London, UK.
J Neurol Neurosurg Psychiatry. 1993 May;56(5):492-5. doi: 10.1136/jnnp.56.5.492.
Thirty eight patients with neurofibromatosis 1 (NF1) had neurological examinations, intellectual assessments and MRI scans. Increased intensity lesions on T2 weighted images were found in 13 patients. These abnormalities were more common in patients aged under 18 years. The lesions occurred predominantly in the basal ganglia, brainstem and cerebellum, and were multiple in 11 patients. They did not produce symptoms or neurological deficit in any patient and did not enhance with gadolinium-meglumine-triamine-pentaacetic acid contrast medium (Gd-DTPA). In 2 patients, however, the abnormalities exerted mass effect distorting the brain and in 3 patients they occurred in conjunction with known gliomas. The lesions remained unchanged over a three year follow up period. The nature of the lesions is uncertain but the fact that they may produce mass effect and occur in association with gliomas suggests that they have malignant potential. There was no correlation between the presence of these abnormalities and intellectual impairment.
38例1型神经纤维瘤病（NF1）患者接受了神经学检查、智力评估和MRI扫描。13例患者在T2加权图像上发现强化病变。这些异常在18岁以下患者中更为常见。病变主要发生在基底神经节、脑干和小脑，11例患者为多发。它们在任何患者中均未产生症状或神经功能缺损，且使用钆喷酸葡胺造影剂（Gd-DTPA）后无强化。然而，2例患者的异常产生了占位效应，使脑结构变形，3例患者的病变与已知的胶质瘤同时出现。在三年的随访期内，病变保持不变。病变的性质尚不确定，但它们可能产生占位效应并与胶质瘤相关这一事实表明它们具有恶性潜能。这些异常的存在与智力损害之间无相关性。
