Objective: To analyze the clinical characteristics, treatment and prognosis of Hashimoto's encephalopathy presenting with isolated cerebellar ataxia in children. Methods: A retrospective analysis was performed on the clinical features, laboratory tests, neuroelectrophysiological examination, imaging, treatment and outcomes of 13 patients with Hashimoto's encephalopathy presenting with isolated cerebellar ataxia, who were admitted to the Department of Pediatric Neurology of Guangzhou Women and Children's Medical Center from January 2016 to May 2021. Results: Among the 13 cases, 6 were males and 7 were females. The onset age was 2.6 (2.0,3.3) years, 9 children had precursor infection or vaccination before the first course of disease. All the 13 children had gait abnormalities or unsteady sitting, 10 had intentional tremor, 6 had dysarthria, 3 had body tremor, 2 had nystagmus, 3 had fatigue, 3 had hypotonia, 2 had vomiting and 1 had irritability. Thyroglobulin antibody (TgAb) was 500.0 (298.9,587.2) kU/L and thyroid peroxidase antibody (TPOAb) was 621.9 (449.6,869.4) kU/L in 13 cases. Autoantibodies were positive in 9 cases, and cerebrospinal fluid leukocytosis was seen in 4 cases. Regarding electroencephalography result, 4 cases had background slowing and 1 case had occasional sharp waves. Among the 3 patients who had relapses, 1 had cerebellar atrophy shown on cranial magnetic resonance imaging (MRI) during the recurrence. All the patients received intravenous immunoglobulin (IVIG) and intensive methylprednisolone therapy during the first onset, followed by the disappearance of the symptoms, 1 patient had repeated episodes which was decreased after immunosuppressive treatment with Rituximab.Followed up for 25.0 (22.5,33.3) months after the last episode, 12 achieved complete remission and 1 had a wide base gait. Conclusions: Trunk ataxia is the common symptom of Hashimoto's encephalopathy presenting with isolated cerebellar ataxia in children.Children with cerebellar ataxia should be tested for TgAb and TPOAb to detect Hashimoto's encephalopathy, avoiding missed diagnosis and treatment delays; IVIG and intensive steroid therapy is effective, and immunosuppressive therapy for patients with multiple relapses could reduce the recurrence.
目的： 分析仅伴小脑共济失调桥本脑病患儿的临床特征、治疗及预后。 方法： 回顾性分析自2016年1月至2021年5月广州市妇女儿童医疗中心神经内科就诊的13例仅伴小脑共济失调桥本脑病患儿的临床特征、实验室检查、神经电生理检查、影像学、治疗及随访等资料。 结果： 13例患儿中男6例、女7例。起病年龄2.6（2.0，3.3）岁。9例首次病程有前驱感染或疫苗接种，13例步态异常或独坐不稳，10例意向性震颤，6例构音障碍，3例躯体震颤，2例眼球震颤，3例精神稍倦，3例肌力下降，2例呕吐，1例脾气暴躁。13例甲状腺球蛋白抗体（TgAb）500.0（298.9，587.2）kU/L，甲状腺过氧化物酶抗体（TPOAb）621.9（449.6，869.4）kU/L，9例系统性自身抗体阳性，4例脑脊液白细胞升高；4例脑电图背景慢，1例偶发尖波；1例复发时头颅磁共振成像示小脑萎缩。10例单次病程，3例复发病程。13例患儿首次发病首选静脉输注免疫球蛋白联合静脉输注甲泼尼龙冲击治疗，症状消失，1例多次复发予利妥昔单抗治疗后复发减少。末次发作后随访25.0（22.5，33.3）个月，12例完全缓解，1例仅步距稍宽。 结论： 仅伴小脑共济失调桥本脑病的患儿常见躯干共济失调。小脑共济失调患儿应检测TgAb和TPOAb排查桥本脑病，避免漏诊延误治疗；首次发病免疫球蛋白及激素冲击治疗有效，多次复发予免疫抑制治疗可减少复发。.