摘要目的 通过对Segawa病临床特点的描述,提高临床工作者对该病的认识及与帕金森病的鉴别诊断水平. 方法 对解放军总医院儿童医学中心2015年11月收治的1例Segawa病患儿家系成员的临床资料进行回顾性分析.在获得患者知情同意后收集患儿(先证者)及其父母的外周血,提取DNA后使用高通量测序技术进行遗传性运动障碍相关基因检测并采用Sanger测序技术进行验证. 结果 该家系中多例患者成年起病,主要表现为帕金森样症状和肌张力障碍,均被误诊为帕金森病.先证者5岁发病,多巴胺治疗反应好,基因检测发现GCH-1基因的c.557序列突变,诊断为Segawa病.患儿父亲存在同样突变,母亲该位点未见突变. 结论 成人起病的肌张力障碍患者,尤其是伴有阳性家族史的,应考虑Segawa病的可能.基因检测是诊断Segawa病的有效方法.

abstractsObjective To analyze the clinical characteristics of Segawa syndrome to strengthen the understanding of Segawa syndrome and its differential diagnosis with Parkinson's disease.Methods The clinical data of a patient with Segawa syndrome and the family members were retrospectively analyzed.After informed consent,the peripheral blood of the patient and her patients were collected,and DNAs were extracted;high throughput sequencing was used to detect the hereditary movement disorders related genes and Sanger sequencing was performed to verify the results.Results Many patients in this family had onset at adult,mainly presented parkinsonism and dystonia,which was misdiagnosed as having Parkinson's disease.The proband was child onset and responded favorably to small dose of dopamine,and DNA sequencing showed a mutation of Guanosine triphosphate cyclohydrolase-1 gene,diagnosing as having Segawa syndrome.The same mutation existed in the father ofproband and not in her mother.Conclusion It is easy to confuse the adult Segawa syndrome with Parkinson's disease,and gene detection is an effective differential diagnosis method.