Sneddon综合征1例并文献复习 A Case of Sneddon Syndrome and Literature Review

摘要： Sneddon综合征是一种罕见的神经皮肤综合征，主要累及中小动脉，典型临床表现为广泛的皮肤网状青斑，伴随反复发作的缺血性卒中。本病例是一位青年女性，在近10年多次经历小卒中事件，并伴有脊髓蛛网膜下腔出血和多发颅内动脉瘤。基因检测提示腺苷脱氨酶2（adenosine deaminase 2，ADA2）基因杂合突变（c.1240G＞A）。患者曾接受氯吡格雷抗血小板聚集治疗，后停止该治疗。对于卒中反复发作的青年患者，医师应密切观察并详细询问皮肤病变情况，同时建议进行脑血管造影和基因检测，以便更全面地评估和管理这类病例。 Abstract: Sneddon syndrome is a rare neurocutaneous syndrome that mainly involves the small and medium arteries. It is clinically characterized by widespread livedo reticularis with recurrent ischemic strokes. This case described a young woman who has suffered multiple minor strokes over the past decade, accompanied by spinal subarachnoid hemorrhage and multiple intracranial aneurysms. Genetic testing revealed a heterozygous mutation in the adenosine deaminase 2 (ADA2) (c.1240G>A). The patient had been treated with clopidogrel for antiplatelet aggregation but later discontinued the therapy. For young patients with a history of recurrent strokes, physicians should closely observe and inquire about the skin lesions in detail and recommend cerebral angiography and genetic testing to more comprehensively assess and manage such cases.