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摘要: 一例青少年男性患者，反复蛛网膜下腔出血、脑室出血，伴面部及四肢冻疮样皮疹、下肢网状青斑，病情复杂，诊疗难度大。经多学科团队共同讨论，考虑可能为Ⅰ型干扰素病，进一步完善外周血干扰素刺激基因检测协助诊断。考虑患者颅内出血再发风险高、致死致残率高，结合患者及家属意愿，予托法替布、羟氯喹治疗。治疗后患者皮肤网状青斑明显减少，但原颅内动脉瘤破裂导致再次颅内出血，最终死亡。该病例的诊治体现了多学科协作在疑难罕见病诊疗过程中的重要意义。Abstract: We presented an adolescent with recurrent intracranial hemorrhage and skin lesion. The diagnosis was unclear and the treatment was difficult. Through a multidisciplinary effort type Ⅰ interferon disease was suspected and later, an interferon-stimulated gene was further detected. Considering the high morbidity and fatality rate of recurrent intracranial hemorrhage, tofacitinib and hydroxychloroquine were administered. After treatment, the livedo reticularis was significantly regressed. Unfortunately, the intracranial hemorrhage recurred due to a pre-existing cerebral aneurysm, leading to death of the patient. The diagnosis and treatment of this case highlight the importance of multidisciplinary collaboration in the diagnosis and treatment of difficult and rare diseases.
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图 2 患者皮疹表现(图片经患者和家属同意)
A.眼睑(遮挡)、口唇部红斑，轻度水肿；B.手背掌指关节处对称性红斑伴轻度萎缩
Figure 2. Skin lesions of the patient
图 3 神经影像提示蛛网膜下腔出血、脑室出血、多发颅内动脉瘤
A.依次为2016年9月、2019年7月、2019年8月、2021年6月、2021年10月头CT平扫，红色箭头为脑室出血；B.依次为2019年9月、2020年11月、2021年9月数字减影血管造影，黄色箭头为动脉瘤
Figure 3. Neuroimaging showed subarachnoid hemorrhage, intraventricular hemorrhage, and multiple cerebral aneurysm
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