儿童刀砍样线状硬皮病合并颅内病变6例临床及影像学特点分析  

Analysis of clinical and imaging features of 6 cases of linear scleroderma en coup de sabre with central nervous system involvement in children

作　　者：卓秀伟[1] 方方[1] 巩帅[1] 冯卫星[1] 丁昌红[1] 向欣[1] 葛明[1] 张楠[1] 李久伟[1] Zhuo Xiuwei;Fang Fang;Gong Shuai;Feng Weixing;Ding Changhong;Xiang Xin;Ge Ming;Zhang Nan;Li Jiuwei(Department of Neurology,Beijing Children′s Hospital,Capital Medical University,National Center for Children′s Health,Beijing 100045,China)

机构地区：[1]国家儿童医学中心,首都医科大学附属北京儿童医院神经内科,100045

出　　处：《中华儿科杂志》2022年第11期1147-1152,共6页Chinese Journal of Pediatrics

摘　　要：目的总结儿童刀砍样线状硬皮病合并颅内病变的临床及影像学特点。方法回顾性分析2019年5月至2021年11月首都医科大学附属北京儿童医院住院治疗的6例刀砍样线状硬皮病合并颅内病变患儿的临床特点、影像学表现、治疗和随访转归情况。结果6例患儿均为女性,确诊年龄6.8(3.3,11.0)岁,发现面部皮肤损伤年龄3.0(1.7,4.1)岁。5例先出现面部皮肤损伤,1例神经系统症状出现于皮肤损伤前2个月。6例患儿均有额面部"剑伤"样皮肤损伤伴脱发,神经系统表现包括癫痫发作(6例)、局灶性神经系统缺损症状(5例)、头痛(2例)。颅内病变均位于皮肤损伤同侧。6例患儿头颅磁共振成像均为一侧半球以白质受累为主的异常信号,其中3例可见局部脑软化灶。5例磁敏感加权成像可见散在低信号。5例增强磁共振成像可见局部脑实质或软脑膜强化。4例头颅CT可见受累侧局部钙化灶。2例完成皮肤活检,1例同时切除部分病变脑组织,病理提示符合小血管炎,与皮肤病理改变吻合。6例患儿均予抗癫痫药物对症治疗。4例使用泼尼松联合甲氨蝶呤口服,1例仅口服泼尼松,1例因脑萎缩明显处于病情静止期,仅添加抗癫痫药物。随访6~36个月,5例面部皮肤损伤及脱发未进展,1例进展出现半侧颜面萎缩,考虑合并Parry-Romberg综合征;4例癫痫发作得到控制,1例癫痫发作减少但遗留偏瘫症状,1例遗留难治性癫痫、发作性头痛。结论刀砍样线状硬皮病合并颅内病变女童多发,以癫痫发作及神经系统缺损症状为主要表现。常见皮肤损伤同侧颅内病变,出血、钙化及软化常见,皮肤及颅内病变的病理均符合小血管炎。泼尼松及甲氨蝶呤治疗有一定疗效,但部分遗留难治性癫痫及神经缺损症状。Objective To summarize the clinical and imaging features of linear scleroderma en coup de saber(LSCS)with central nervous system involvement in children.Methods The clinical data(clinical manifestations and imaging features)of 6 children diagnosed with LSCS with central nervous system involvement who were admitted to Beijing Children′s Hospital Affiliated to Capital Medical University from May 2019 to November 2021 were retrospectively analyzed.Results The 6 patients were all female,aged 6.8(3.3,11.0)years at the time of diagnosis,and aged 3.0(1.7,4.1)years at the time of discovery of facial skin lesions.Facial skin lesions appeared before neurological symptoms in 5 cases,and neurological symptoms appeared 2 months before skin lesions in 1 case.All the patients had"sword wound"skin lesions on the forehead with alopecia.Neurological manifestations included epileptic seizures in 6 cases,focal neurological defects in 5 cases,and headaches in 2 cases.The intracranial lesions were all ipsilateral to the skin lesions.The magnetic resonance imaging(MRI)of 6 cases showed abnormal signals mainly involving white matter in 1 hemisphere,and 3 cases showed local encephalomalacia.The scattered low signal was observed in 5 cases on susceptibility weighted imaging.Localized brain parenchyma or leptomeninges enhancement was seen on Gadolinium-enhanced sequences in 5 cases.Scattered foci of calcification on the affected side were seen on cranial CT in 4 cases.Skin biopsy was performed in 2 cases.Part of the lesion of the brain was removed in 1 case,and the pathological findings suggested small vasculitis,which was consistent with skin pathological changes.All patients received symptomatic treatment with antiepileptic drugs.Oral prednisone combined with methotrexate was given in 4 cases,and 1 case was given oral prednisone only.One case was presumed to be in the resting stage of the disease due to significant cerebral atrophy in half of the brain,and only antiepileptic drugs were added.The patients were followed up for 6-36 month

关 键 词：癫痫 中枢神经系统 刀砍样线状硬皮病 局限性硬皮病 Parry-Romberg综合征 

分 类 号：R725[医药卫生—儿科] R742[医药卫生—临床医学]