Department of Neurology, Centre Hospitalier Universitaire, Nimes, France.
Eur Neurol. 2012;68(3):156-61. doi: 10.1159/000338476. Epub 2012 Aug 14.
Large cavitary lesions are not typical for multiple sclerosis (MS). Cavitary white matter changes may be seen in megalencephalic leukoencephalopathy with subcortical cysts, Alexander disease, mitochondrial leukoencephalopathies, vanishing white matter disease, leukoencephalopathy with calcifications and cysts, cytomegalovirus infection, and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.
To analyze clinical and radiological characteristics in MS patients with large cavitary lesions.
We studied MS patients with large cavitary brain lesions. Patient characteristics, disease onset/duration/subtype, expanded disability status scale (EDSS), mini mental state (MMS), corpus callosum lesions, history of segmental myelitis, CSF oligoclonal bands (OCB), visual evoked potentials (VEP), vanishing white matter disease genetic analysis, and characteristics of the cavitary lesions were analyzed.
Nine patients were analyzed, 1 man and 8 women. Mean age of disease onset was 38.5 years. Mean disease duration was 9 years. Three patients had initial relapsing-remitting MS and 6 patients had primary-progressive MS. Mean EDSS was 4.5. Mean MMS was 20/30. Segmental myelitis was present in 6 cases. OCB were found in 6 patients. VEP was performed in 6 patients, and pathological in all but one. Vanishing white matter disease genetic analysis was performed and negative in 5 patients. Inferior corpus callosum lesions were seen in all patients with available sagittal FLAIR sequences. Cavitary lesions were strictly supratentorial, and located inside the diffuse leukoencephalopathy, with often a posterior predominance.
MS patients with large cavitary lesions seem to represent an MS subgroup, predominantly women, with relatively late disease onset, predominantly primary-progressive type, relatively high EDSS scores, and severe cognitive dysfunction.
大空洞性病变并非多发性硬化症(MS)的典型表现。大囊状脑白质病变可见于巨脑白质脑病伴皮质下囊肿、亚历山大病、线粒体脑肌病、进行性脑白质病、脑白质病伴钙化和囊肿、巨细胞病毒感染以及脑常染色体显性动脉病伴皮质下梗死和脑白质病。
分析 MS 患者大空洞性病变的临床和影像学特征。
我们研究了 MS 伴有大空洞性脑病变的患者。分析了患者的特征、发病/病程/亚型、扩展残疾状态量表(EDSS)、简易精神状态检查(MMS)、胼胝体病变、阶段性脊髓炎病史、CSF 寡克隆带(OCB)、视觉诱发电位(VEP)、进行性脑白质病的遗传分析以及空洞病变的特征。
分析了 9 例患者,男 1 例,女 8 例。疾病发病的平均年龄为 38.5 岁。平均病程为 9 年。3 例患者为首发复发缓解型 MS,6 例患者为原发性进展型 MS。EDSS 平均为 4.5。MMS 平均为 20/30。6 例患者有阶段性脊髓炎。6 例患者发现 OCB。6 例患者进行了 VEP,除 1 例外均为异常。对 5 例患者进行了进行性脑白质病的遗传分析,结果均为阴性。所有患者均有矢状位 FLAIR 序列可见的胼胝体下病变。空洞病变严格位于幕上,位于弥漫性脑白质病变内,常呈后颅窝优势。
MS 伴有大空洞性病变的患者似乎代表了一个 MS 亚组,主要为女性,发病较晚,主要为原发性进展型,EDSS 评分较高,认知功能严重受损。