Acute simultaneous multiple lacunar infarcts as the initial presentation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
Acute simultaneous multiple lacunar infarcts as the initial presentation of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
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DOI：
10.1016/j.jcma.2015.01.007
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发表时间：
2015-07-01
影响因子：
3
通讯作者：
Lee, Yi-Chung
中科院分区：
文献类型：
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作者：
Hsiao, Cheng-Tsung;Chen, Yun-Chung;Lee, Yi-Chung
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）是一种由NOTCH 3突变引起的成人发病的显性遗传性脑小血管疾病，其特征为复发性皮质下梗死、痴呆、有先兆的偏头痛和情绪障碍。我们报告一个以急性多发性皮质下腔隙性脑梗塞为首发表现的CADASIL患者。一名69岁男子在骨科手术后出现意识模糊、嗜睡、右侧轻偏瘫和言语不清。脑磁共振成像显示弥漫性白质脑病和多发性急性皮质下腔隙性梗死。脑磁共振血管造影、超声心动图和24小时心电图无异常。经补液、抗血小板治疗后症状迅速好转，3天内意识、精神完全恢复。NOTCH3基因检测显示杂合错义突变，c.1630C>T（p.Arg544Cys）。本病例的经验表明，脑成像在处理术后意识模糊方面很重要，任何病因不明的弥漫性白质脑病患者都可能需要进行NOTCH3突变检测。手术是NOTCH3突变个体发生脑病和急性梗死的重要因素。对于即将接受麻醉和手术的CADASM患者，有必要进行全面的术前评估和积极的围手术期预防措施，以避免脱水和贫血。版权所有（C）2015 Elsevier Taiwan LLC及中华医学会。All rights reserved.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an adult-onset, dominantly inherited small-vessel disease of the brain caused by NOTCH3 mutations and characterized by recurrent subcortical infarctions, dementia, migraine with aura, and mood disturbance. We report a patient with unusual presentation of CADASIL with acute simultaneous multiple subcortical lacunar infarcts as the first manifestation. A 69-year-old man developed confusion, drowsiness, right hemiparesis, and slurred speech following orthopedic surgeries. Brain magnetic resonance imaging revealed diffuse leukoencephalopathy and multiple acute subcortical lacunar infarcts. Brain magnetic resonance angiography, echocardiography and 24-hour electrocardiography were unremarkable. The symptoms improved quickly after treatment with fluid hydration and antiplatelet agent, and his consciousness and mentality totally recovered within 3 days. The NOTCH3 genetic testing showed a heterozygous missense mutation, c.1630C>T (p. Arg544Cys). The experience in this case suggests that brain imaging is important in managing postoperative confusion, and any patient with diffuse leukoencephalopathy of unknown etiology may need to be tested for NOTCH3 mutations. Surgery is an important factor of encephalopathy and acute infarction in individuals with NOTCH3 mutations. Comprehensive presurgical evaluations and proactive perioperative precautions to avoid dehydration and anemia are necessary for patients with CADASM who are about to receive anesthesia and surgery. Copyright (C) 2015 Elsevier Taiwan LLC and the Chinese Medical Association. All rights reserved.