表现为反复全面性发作的 CADASIL 患者：病例报告及文献复习
Recurrent generalized seizures as the prominent manifestation in a patient with CADASIL: a case report and literature review.
机构信息
Department of Neurology, the First Affiliated Hospital of China Medical University, Number 155, Nanjing Street, Heping District, Shenyang City, 110001, Liaoning Province, China.
出版信息
BMC Neurol. 2022 Sep 30;22(1):375. doi: 10.1186/s12883-022-02889-7.
BACKGROUND
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited arteriopathy typically caused by mutations in the NOTCH-3 gene. Few detailed descriptions of recurrent generalized seizures in CADASIL has been reported.
CASE PRESENTATION
This article details a case of recurrent generalized seizures, which eventually be diagnosed as CADASIL with a heterozygous variant, c.1630 C > T (p. Arg544Cys), in exon 11 of the Notch 3 gene. Here, we discussed the possible pathogenesis underlying the epilepsy associated with CADASIL through the brain magnetic resonance imaging changes and the captured epileptiform waves in the electroencephalography during the patient's follow-up period. Related literatures were also reviewed to discuss the etiology of the epilepsy.
CONCLUSIONS
Recurrent generalized seizures may be a presenting neurological manifestation of CADASIL in the absence of other discernible causes. Clinicians should comprehensively seek the possible etiology of patients with recurrent generalized seizures, considering the possible diagnosis of CADASIL.
背景
伴有皮质下梗死和白质脑病的脑常染色体显性遗传性动脉病（CADASIL）是一种常染色体显性遗传性血管病，通常由 NOTCH-3 基因突变引起。CADASIL 中复发性全身性癫痫发作的详细描述较少。
病例介绍
本文详细介绍了一例复发性全身性癫痫发作的病例，最终通过 Notch 3 基因第 11 外显子中的杂合变异 c.1630C>T（p.Arg544Cys）诊断为 CADASIL。在这里，我们通过患者随访期间的脑磁共振成像变化和脑电图中捕获的癫痫样波，讨论了与 CADASIL 相关癫痫的潜在发病机制。还回顾了相关文献，讨论了癫痫的病因。
结论
在没有其他明显原因的情况下，复发性全身性癫痫发作可能是 CADASIL 的首发神经表现。对于复发性全身性癫痫发作的患者，临床医生应全面寻找可能的病因，考虑 CADASIL 的可能诊断。
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