Homozygous adenosine deaminase 2 variant causing Sneddon syndrome:a case report
- VernacularTitle:腺苷脱氨酶2基因纯合突变致Sneddon综合征一例
- Author:
Fei MA
1
;
Qinqin ZHANG
1
;
Zhiwen LI
1
;
Chenfei LIU
1
;
Jun SHI
1
;
Lihua QIAN
1
;
Xiaoqiang LI
1
;
Guofeng LI
1
Author Information
- Publication Type:Journal Article
- Keywords: Sneddon syndrome; Adenosine deaminase 2; Diagnosis; Youth stroke
- From: Chinese Journal of Cerebrovascular Diseases 2025;22(7):497-501
- CountryChina
- Language:Chinese
- Abstract: Sneddon syndrome is a rare neurocutaneous disorder that primarily affects small-and medium-sized arteries.Its clinical manifestations include livedo racemosa and recurrent cerebral ischemic events,and it may also involve multiple organs such as the heart,spleen,and kidneys.This disease can lead to early-onset stroke,making it a rare cause of stroke in young adults.This article reported a case of a young female patient who experienced two cerebral infarctions within one month.Genetic testing identified a homozygous mutation in the adenosine deaminase 2 gene,confirming the diagnosis of Sneddon syndrome.This case serves as a reference to improve clinical recognition of this disease.
