[Small vessel-childhood primary angiitis of the central nervous system: a case report and literature review].

Objective: To summarize the clinical and pathological features of small vessel-childhood primary angiitis of the central nervous system (SV-cPACNS), discuss the immune therapy and increase the attention to brain biopsy in SV-cPACNS. Methods: The clinical data, pathology of brain biopsy, treatment and outcome of an SV-cPACNS patient hospitalized in Beijing Children's Hospital in February 2016 were analyzed retrospectively. The cases reported at Pubmed, CNKI and Wanfang databases from 2007 to 2017 were searched, the clinical and pathological features, immunotherapy and prognosis of the disease were summarized according to the literature review. Results: A 70 months old girl had 6 times relapses during 5 months' disease course. Symptoms included convulsions, limb paralysis, blurred vision and speech difficulty. Multiple cortical lesions were found successively in brain MRI but CT angiography was negative. The pathology of brain biopsy revealed thickening of small vessel walls together with lymphocytic infiltration. After the treatment with rituximab, remission was achieved and remained stable without recurrence in 1 year follow up. A total of 44 pathologically confirmed cases reported in nearly 10 years were retrieved. Male to female ratio was 1∶3.5. The average onset age was 9.8 years. Clinical manifestations included seizures (37/45, 82%), headache (35/45, 78%), cognitive decline (28/45, 62%), speech regression(20/45, 44%), paralysis (15/45, 33%), and so on; 70% (19/27) patients experienced relapses. Erythrocyte sedimentation rate and C-reactive protein slightly elevated, antinuclear antibody and other autoimmune antibodies were mostly negative. Mild lymphocytosis in cerebrospinal fluid was found in 67%(29/43) patients. 53%(23/43) patients had elevated CSF protein level, several had elevated IgG and positive oligoclonal band. Bilateral multifocal lesions were revealed in 80% (36/45) brain MRIs, meanwhile all angiographies were unremarkable. The pathology showed small angiitis and immunohistochemistry positive for CD3 and CD20. Twenty-seven patients had detailed therapeutic information; 25 of them received immunosuppressive agents, including cyclophosphamide, mycophenolate mofetil and rituximab. One patient died, 26 patients achieved remission with 54% (22/44) had neurological sequelae. Conclusions: SV-cPACNS had varied clinical manifestations, there was no specificity in laboratory and imaging examination and angiography was often negative. The definite diagnosis relied on brain biopsy, which showed lymphocytic inflammation of small vessels. SV-cPACNS tended to relapse and induce neurologic deterioration. Treatment required long-term use of steroids and immunosuppressive agents. Rituximab could be an effective agent.目的： 总结小血管性儿童原发性中枢神经系统血管炎的临床及病理特点，探讨本病的免疫治疗，提高对脑活检病理诊断的重视。 方法： 回顾性分析2016年2月北京儿童医院收治的1例小血管性儿童原发性中枢神经系统血管炎的临床资料、脑活检病理及治疗转归。以"儿童原发性中枢神经系统血管炎"为检索词，检索Pubmed、CNKI及万方数据库中建库至2017年6月报道的病例，结合文献复习总结本病的临床及病理特点、免疫治疗及预后。 结果： 患儿，女，5岁5月龄起病，病程5个月，病情反复6次，分别表现为抽搐、肢体无力、视物模糊、言语不利，头颅核磁先后出现多发皮层病灶，CT血管造影阴性，脑活检病理示小血管壁增厚、淋巴细胞浸润，予利妥昔单抗治疗后病情缓解，随访1年无反复。检索到近10年报道的病理确诊病例共44例，男女比为1∶3.5，平均起病年龄9.8岁，临床表现为抽搐（37/45，82%）、头痛（35/45，78%）、认知损伤（28/45，62%）、语言障碍（20/45，44%）、肢体瘫痪（15/45，33%）等，70%（19/27）病情反复发作。红细胞沉降率、C反应蛋白可轻度升高，抗核抗体等自身抗体多为阴性；67%（29/43）脑脊液白细胞轻度升高、淋巴细胞为主，53%（23/43）脑脊液蛋白升高，部分IgG升高、寡克隆区带阳性。头颅核磁80%（36/45）为双侧多发病灶，血管造影均阴性。病理呈小血管炎，免疫组织化学CD3、CD20阳性。治疗经过详细的27例中25例应用免疫抑制剂，包括环磷酰胺、霉酚酸酯、利妥昔单抗等。死亡1例，病情缓解26例，54%（22/44）遗留神经系统后遗症。 结论： 小血管性儿童原发性中枢神经系统血管炎临床表现多样，实验室及影像学检查无特异性，血管造影阴性，确诊依靠脑活检，病理特点为淋巴细胞性小血管炎；病情易反复，常遗留神经系统后遗症，需应用激素及免疫抑制剂治疗，利妥昔单抗治疗有效。.