Clinical features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy manifested as epileptic seizures
10.3760/cma.j.cn115354-20250306-00119
- VernacularTitle:表现为癫痫发作的CADASIL的临床特征分析
- Author:
Peng QI
1
;
Cuixiang LIU
;
Zhengfeng SONG
;
Lei MA
Author Information
1. 滕州市中心人民医院神经内科，滕州 277500
- Publication Type:Journal Article
- Keywords:
Epilepsy;
CADASIL;
Clinical feature
- From:
Chinese Journal of Neuromedicine
2025;24(5):496-500
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the clinical features of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) manifested as epileptic seizures.Methods:Clinical data of a family with CADASIL manifested as epileptic seizures admitted to Department of Neurology, Tengzhou Central People's Hospital in December 2018 were collected. Literature on CADASIL manifested as epileptic seizures was collected from databases of CNKI, Wanfang, VIP and PubMed published from database establishment to July 31, 2024. Clinical, imaging and genetic test results of these 48 patients were analyzed.Results:The proband presented with recurrent generalized tonic-clonic seizure, and had history of cerebral infarction and cognitive impairment. His mother had a similar history. Multiple lacunar infarction and extensive white matter lesion (involving the temporal pole, external capsule and superior frontal gyrus) and intracranial artery stenosis (ICAS) was noted at the proband. His son had no clinical symptom, but had multiple white matter lesion, without temporal pole involvement or ICAS. The proband and his son had the same pathogenic heterozygous missense mutation site C.505 C>T(P. Arg169Cys) at NOTCH3 gene. Among these 48 patients, 25 (52.1%) had stroke and 33 (68.8%) had cognitive impairment. All patients showed white matter lesion on imaging, including 19 (39.6%) with temporal pole involvement, 21 (43.8%) with external capsule involvement, 38 (79.2%) with multiple lacunar infarction, and 2 (4.2%) with ICAS. Conclusion:ICAS is rare in patients with CADASIL manifested as epileptic seizures; cognitive impairment and stroke are often accompanied; extensive white matter lesion is the clue for diagnosis.
