Servicio de Neurología, Hospital Británico de Buenos Aires, Buenos Aires, Argentina.
Servicio de Neurología, Hospital Británico de Buenos Aires, Buenos Aires, Argentina.
Neurologia (Engl Ed). 2023 Mar;38(2):82-86. doi: 10.1016/j.nrleng.2020.04.031. Epub 2022 Nov 17.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease caused by mutations of the NOTCH3 gene. It typically presents with migraine, recurrent brain ischaemia, and cognitive disorders. Seizures rarely present as the initial manifestation, with non-convulsive status epilepticus being even less frequent. We present a series of 3 related patients with this arteriopathy, 2 of whom presented status epilepticus as a manifestation of the disease.
伴有皮质下梗死和白质脑病的脑常染色体显性血管病(CADASIL)是一种常染色体显性小血管疾病,由 NOTCH3 基因突变引起。它通常表现为偏头痛、反复发作的脑缺血和认知障碍。癫痫发作很少作为首发表现,非惊厥性癫痫持续状态更为罕见。我们报告了 3 例具有这种血管病的相关患者,其中 2 例表现为癫痫持续状态。