[A case of epilepsy and intracranial calcification caused by a variant of CLDN5 gene]

Z Yi; X Y Li; L P Zhang; C Q Yang; F Li; Z F Song; J Xue; Y Zhang; C D Wang

doi:10.3760/cma.j.cn112140-20230904-00155

[A case of epilepsy and intracranial calcification caused by a variant of CLDN5 gene]

Zhonghua Er Ke Za Zhi. 2024 Feb 2;62(2):183-185. doi: 10.3760/cma.j.cn112140-20230904-00155.

[Article in Chinese]

Authors

Z Yi¹, X Y Li², L P Zhang³, C Q Yang¹, F Li¹, Z F Song¹, J Xue¹, Y Zhang¹, C D Wang²

Affiliations

¹ Department of Pediatric Neurology, the Affiliated Hospital of Qingdao University, Qingdao 266000, China.
² Department of Neurology and Neurobiology, Xuanwu Hospital of Capital Medical University, National Clinical Research Center for Geriatric Diseases (Xuanwu Hospital), Beijing 100053, China.
³ Department of Pediatrics, Xuanwu Hospital of Capital Medical University, Beijing 100053, China.

PMID: 38264822
DOI: 10.3760/cma.j.cn112140-20230904-00155

Abstract

患儿女，2岁，自1岁3月龄开始反复出现癫痫持续状态发作，合并发作性偏瘫，运动、语言发育落后，小头畸形，颅脑CT示特征性颅内钙化，病初颅脑磁共振成像未见明显异常，多次癫痫持续状态发作后可见脑萎缩。予丙戊酸钠、托吡酯联合抗癫痫发作治疗，随访至2岁6月龄患儿未再有癫痫发作，肢体肌力基本恢复基线水平。家系全外显子测序检出CLDN5基因变异：c.178G>A（p.Gly60Arg）（NM_001363066.2），为新发变异，线粒体环基因检测结果为阴性。.

Publication types

Case Reports

MeSH terms

Brain / diagnostic imaging
Brain / metabolism
Calcinosis* / genetics
Claudin-5 / genetics
Claudin-5 / metabolism
Epilepsy* / genetics
Humans

Substances

CLDN5 protein, human
Claudin-5