From the Stroke Research Group, Department of Clinical Neurosciences, University of Cambridge, United Kingdom (A.M.D., R.Y.Y.T., J.T., M.T., H.S.M.).
Department of Radiology, Cambridge University Hospital NHS Foundation Trust, United Kingdom (T.D.).
Stroke. 2019 Feb;50(2):283-290. doi: 10.1161/STROKEAHA.118.023661.
Background and Purpose- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic form of stroke usually presenting with migraine with aura, lacunar infarcts, and cognitive impairment. Acute encephalopathy is a less recognized presentation of the disease. Methods- Data collected prospectively from 340 consecutively recruited symptomatic patients with diagnosis of CADASIL seen in a British National CADASIL clinic was retrospectively reviewed and original clinical records and imaging obtained. An encephalopathic event was defined as an acute event of an altered state of consciousness in a patient with CADASIL, manifesting with signs of brain dysfunction, which warranted hospital admission in the absence of any other cause. Clinical characteristics, risk factors, and outcome of encephalopathic presentations were studied. Results- A total of 35 of 340 (10.3%) participants had a history of 50 encephalopathic events which was the first hospital presentation of CADASIL in 33 (94.3%) patients. Most commonly reported features during episodes were visual hallucinations (44%), seizures (22%), and focal neurological deficits (60%).Complete recovery within 3 months was reported in 48(96%) episodes. In 62% of episodes, there was a history of migraine or migraine aura directly preceding the encephalopathy. In 2 out of 15 cases where magnetic resonance imaging during episodes was available, unilateral focal cortical swelling was seen. A past history of migraine was independently associated with encephalopathy (odds ratio=12.3 [95% CI, 1.6-93.7]; P=0.015). Conclusions- In up to 10% of CADASIL patients, a reversible encephalopathy is the first presentation leading to diagnosis. The strong association with migraine suggests a shared pathogenesis. Focal cortical swelling may be seen on magnetic resonance imaging during the acute episode.
背景与目的- 伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病（CADASIL）是最常见的遗传性卒中类型，通常表现为伴先兆的偏头痛、腔隙性梗死和认知障碍。急性脑病是该病较不常见的表现形式。方法- 前瞻性收集英国国家 CADASIL 临床诊所诊断为 CADASIL 的 340 例连续招募的症状性患者的数据，回顾性分析原始临床记录和影像学资料。脑病事件定义为 CADASIL 患者意识状态改变的急性事件，表现为脑功能障碍的体征，在无其他原因的情况下需要住院治疗。研究了脑病表现的临床特征、危险因素和结局。结果- 340 例患者中共有 35 例（10.3%）有 50 次脑病发作史，其中 33 例（94.3%）为 CADASIL 的首次住院表现。发作期间最常报告的特征是视幻觉（44%）、癫痫发作（22%）和局灶性神经功能缺损（60%）。48 例（96%）发作在 3 个月内完全恢复。62%的发作前有偏头痛或偏头痛先兆的病史。在 15 例有发作期间磁共振成像资料的病例中，有 2 例可见单侧皮质局灶性肿胀。既往偏头痛史与脑病独立相关（优势比=12.3[95%可信区间，1.6-93.7]；P=0.015）。结论- 在多达 10%的 CADASIL 患者中，可逆性脑病是导致诊断的首发表现。与偏头痛的强烈关联提示存在共同的发病机制。在急性发作期间磁共振成像上可能可见局灶性皮质肿胀。
