儿童"刀砍样"线状硬皮病伴中枢神经系统受累的临床研究

Clinical study of linear scleroderma"en coup de sabre"with central nervous system involvement in children

目的探讨伴中枢神经系统受累的线状硬皮病的临床特征、影像学特点、治疗方案选择和预后。方法分析2019年3月25日北京大学第一医院儿科收治的以头晕、呕吐、视物模糊起病的"刀砍样"线状硬皮病(LSES)学龄期患儿1例的临床资料。检索相关文献,复习病例临床特点及治疗效果。结果本例患儿临床特点为头晕、呕吐伴视物模糊,为反复、短暂性发作,头颅影像学提示左侧额顶颞叶白质、扣带回、基底核区、胼胝体近压部异常信号,病灶区脑表面多发软脑膜线样强化及脑实质异常强化。经甲氨蝶呤(MTX)和皮质类固醇联合治疗2个月后头晕、呕吐等症状消失。治疗3个月后,头颅影像学显示大脑半球脑白质病变及脑实质多发钙化较前明显减轻。随访11个月,患儿无临床症状,脱发处新生毛发密集,皮损处皮肤色泽、质地及皮纹接近正常。复习国内相关文献,均未涉及治疗及预后;国外文献报道5例患儿,治疗均首选甲泼尼龙联合MTX,疗效显著,与本例患儿治疗一致。结论临床考虑LSES的患者,无论有无神经系统受累的临床表现,均应早期进行颅骨完整性评估、神经系统影像学检查,以期及早发现并积极治疗,改善预后。

Objective To investigate the clinical features,imaging features,treatment options and prognosis of linear scleroderma with central nervous system involvement.Methods One case of linear scleroderma"en coup de sabre"(LSES)school-age child suffering from dizziness,vomiting and blurred vision was admitted to the Department of Pediatrics,Peking University First Hospital on March 25,2019.The curative effect was observed after treatment.The relevant literature was searched,and the characteristics of cases and therapeutic effects were reviewed.Results The clinical features of this case included recurrent and transient dizziness,vomiting,and blurred vision.Cranial imaging indicated abnormal signals in the left frontotemporal lobe white matter,cingulate gyrus,basal ganglia region,and corpus callosum proximal pressure part,multiple soft meningeal line enhancement and abnormal brain substance enhancement on the brain surface in the lesion area.After 2 months of combined treatment with Methotrexate(MTX)and corticosteroids,some symptoms such as dizziness and vomiting disappeared.Three months after the treatment,in the primary cerebral hemisphere and multiple calcifications in the brain parenchyma,the lesions significantly reduced in cranial imaging.The child was followed up for 11 months and displayed no clinical symptoms.New hair was dense at the alopecia area,and skin color,texture and grain were close to normal at the damaged area.In the review of domestic literature,treatment and prognosis were not involved.Foreign literatures reported 5 cases of children,with the first choice of Methylprednisolone being combined with MTX treatment,significant effect was observed,and consistent with the treatment of this case.Conclusions In order to detect and treat them as early as possible and improve the prognosis,LSES patients should undergo cranial integrity assessment and neurological imaging examination at an early stage,regardless of clinical manifestations of nervous system involvement.