唐氏综合征合并桥本毒症、反复脑梗死1例并文献复习

Down's syndrome in concomitant with Hashimoto thyrotoxicosis,recurrent cerebral infarction: one case report and literature review

目的通过1例唐氏综合征(DS)合并桥本毒症、反复脑梗死的报道,探讨DS合并脑梗死可能的机制。方法详细介绍1例10岁DS患儿合并桥本氏甲状腺炎、甲状腺毒症(HTT)和反复脑梗死的诊断治疗过程,系统检索文献并复习已报道的类似病例,汇总DS合并脑梗死病例的临床特征。结果 10岁女童,以"消瘦,无力,多汗4月余"主诉入院,既往曾检查染色体核型47,XX,+21,诊断DS。入院后查甲状腺功能提示TPOAb明显升高、TRAb正常,TSH降低,抗双链DNA抗体1∶101(+),抗组蛋白抗体1∶101(+),MPO 1∶101弱(+),PR3 1∶101弱(+),诊断为HTT。予抗甲状腺等治疗后好转出院。2月余后无明显诱因2次发生肢体无力、行走困难,MRI分别提示左侧和右侧脑梗死。予康复、抗凝、抗炎和抑制免疫治疗后,肌力恢复正常,随访1年患儿病情稳定。从Web of science、Pub Med数据库、中国知网和万方数据库系统检索DS合并脑梗死的相关文献共19篇,汇总17例DS合并脑梗死病例,41.2%合并感染,52.9%合并Moyamoya病,23.5%合并甲状腺功能异常,47.1%伴有自身抗体阳性,DS合并脑梗死总体预后较好。结论 DS合并桥本毒症、反复的脑梗死少见,但对生存时间较长的DS患者需要关注自身免疫性疾病发生的可能。

Objective To analyze the potential mechanisms of Down＇ s syndrome（ DS） with cerebral infarction by reporting a case of Down＇s syndrome（ DS） combined with recurrent cerebral infarction,hashimoto thyrotoxicosis. Methods The diagnosis and treatments of a 10-years old girl with DS,Hashimoto thyrotoxicosis（ HTT） and recurrent cerebral infarction were reported in detail.Clinical features of similar cases from published literatures were summarized. All literatures were retrieved systematically.Results A 10-years-old girl with DS（ 47,XX,＋ 21） was admitted to our hospital due to weight loss,fatigue and sweating for 4months. She was diagnosed as HTT due to obviously increased TPOAb,normal TRAb and depressed TSH. Test results were positive for anti-double-stranded DNA,anti-histone antibody,MPO and PR3. She then received antithyroid therapy and recovered.Two months after discharging from the hospital,she developed left and right sidecerebral infarction two times without obvious predisposing cause. She then accepted rehabilitation, anticoagulation and immunosuppressive therapy and myodynamia was recovered around three weeks later. Her general status kept stable more than one year before the current follow up. Nineteen related literatures concerning DS with cerebral infarction from web of science,pubmed,cnki and wanfang database were searched and seventeen of them were summarized. Infection occurred in 41. 2% patients,moyamoya in 52. 9%,thyroid dysfunction in 23. 5%and 47. 1% patients were found to have positive autoantibodies,however they had better prognosis in general. Conclusion Child with DS,cerebral infarction and HTT is extremely rare and autoimmunity disease in elder DS should be concerned.