CADASIL 的炎症样表现：诊断挑战。
Inflammatory-like presentation of CADASIL: a diagnostic challenge.
机构信息
Department of Neurology, Strasbourg University Hospital, 1, Avenue Molière, 67000, Strasbourg, France.
出版信息
BMC Neurol. 2012 Aug 21;12:78. doi: 10.1186/1471-2377-12-78.
BACKGROUND
CADASIL is an autosomal dominant genetic leukoencephalopathy linked to mutations in the Notch3 gene. In rare cases, widespread brain lesions on T2 MRI mimicking multiple sclerosis are observed. From a national registry of 268 patients with adult-onset leukodystrophy, we identified two patients with an atypical presentation of CADASIL without co-occurrence of another systemic disease.
CASE PRESENTATIONS
Patient 1 experienced progressive gait disability and patient 2 relapsing optic neuritis and sensory-motor deficit in the leg. Both patients responded to corticotherapy and patient 2 was also responsive to glatiramer acetate. No oligoclonal bands were found in the CSF, and MRI showed myelitis and lesions with gadolinium enhancement in brain (patient 1) or incomplete CADASIL phenotype (patient 2).
CONCLUSIONS
In rare cases, an inflammatory-like process can occur in CADASIL. In these patients, immunomodulatory treatments, including corticosteroids, could be effective.
背景
CADASIL 是一种常染色体显性遗传的脑白质病，与 Notch3 基因突变有关。在极少数情况下，T2 MRI 上可见广泛的脑病变，类似于多发性硬化症。从一个包含 268 例成人起病白质营养不良患者的全国登记处，我们发现了两例具有 CADASIL 不典型表现的患者，且无其他系统性疾病共存。
病例介绍
患者 1 出现进行性步态障碍，患者 2 出现复发性视神经炎和腿部感觉运动功能障碍。两名患者均对皮质激素治疗有反应，患者 2 对格拉替雷也有反应。CSF 中未发现寡克隆带，MRI 显示脑脊髓炎和脑内有钆增强病变（患者 1）或不完全 CADASIL 表型（患者 2）。
结论
在极少数情况下，CADASIL 中可能会发生炎症样过程。在这些患者中，免疫调节治疗，包括皮质类固醇，可能是有效的。
Zotero 插件