Sneddon综合征2例分析

Two Cases Analysis of Sneddon Syndrome

目的研究Sneddon综合征(Sneddon syndrome,SS)的临床表现、诊断及治疗,以提高临床对该综合征的认识,提高诊疗水平。方法收集2014年8月1日-2017年6月1日于首都医科大学附属北京天坛医院神经病学中心住院治疗的Sneddon综合征患者2例,回顾性分析患者临床资料,总结其临床表现、实验室检查、神经影像学检查、认知功能评价、神经病理学特征及治疗。结果 2例患者均出现皮肤广泛网状青斑合并多次缺血性卒中事件,均未发现特异性的血生化及脑脊液异常。头颅磁共振成像(magnetic resonance imaging,MRI)均可见颅内多发的异常信号,颅内外血管影像学评价均未发现明显的大血管狭窄。认知功能评价可见患者认知功能均存在下降。行皮肤病理组织活检,病理结果均符合SS表现。治疗上均采取了抗血小板聚集治疗,对于认知功能下降,予以改善认知疗法。结论 Sneddon综合征的诊断要综合考虑患者的临床表现、实验室检查、影像学检查结果以及皮肤病理组织活检结果。患者的特征性皮肤表现及多次卒中事件有助于该病的诊断,必要时可行皮肤活检以明确诊断。

Objective To investigate the clinical features, diagnosis and treatment in patients with Sneddon syndrome（SS）, aiming to improve the clinical doctors＇ understanding of this syndrome and enhance the ability of diagnosis and treatment of SS.Methods A total of 2 cases who were admitted to neurological disease center of Beijing Tiantan hospital, Capital Medical University during Aug.1 st, 2014 to Aug.1 st, 2017 and diagnosed with SS were reviewed. Their clinical descriptions, laboratory examinations, neuroimaging, cognitive function evaluation, pathological characteristic and treatment were analyzed.Results Clinical manifestations： 2 cases both suffered from generalized livedo racemosa of the skin and multiple recurrent ischemic stroke events. No specific blood biochemical and cerebral spinal fluid（CSF） abnormalities were found in both patients. Intracranial multiple abnormal signals was seen in magnetic resonance imaging（MRI）. Intracranial and extracranial large vascular imaging evaluations were not significantly abnormal. Both patients had cognitive dysfunction. Skin biopsy was performed in 2 patients and the pathologic results were consistent with SS feature. Both cases were given antiplatelet and improving cognitive function therapy.Conclusion The diagnosis of SS should be made considering the patient＇s clinical manifestations, laboratory tests, imaging findings and the skin biopsy. Characteristic manifestations of the skin and multiple recurrent ischemic stroke events are helpful to the diagnosis of the disease. When necessary, skin biopsy can be performed in order for make clear diagnosis.