Homozygous adenosine deaminase 2 variant causing Sneddon syndrome:a case report
Ma Fei
Zhang Qinqin
Li Zhiwen
Liu Chenfei
Shi Jun
Qian Lihua
Li Xiaoqiang
Li Guofeng
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.
Keywords：Sneddon syndromeAdenosine deaminase 2DiagnosisYouth stroke
Publication Date：2025-07-18
Online Publishing Date：2025-09-01(First online date of this platform, not the publication date of the document)
Pages：5( 497-501 )