DiGeorge综合征伴甲状腺功能亢进1例并文献复习

目的探讨DiGeorge综合征(DGS)合并甲状腺功能亢进(甲亢)患儿的临床特点,提高对该病的认识。方法报告1例DGS合并甲亢患儿的症状、辅助检查结果、外周血基因组DNA染色体芯片结果、治疗和随访情况;在中国期刊全文数据库(CNKI)和PubMed中检索DGS合并甲亢患儿的文献,检索时间为建库至2017年5月31日,总结DGS合并甲亢患儿的临床特征及其与遗传学异常的关联。结果患儿女,12岁,因"1年内抽搐发作2次,发现甲状腺功能异常4月"于2016年12月就诊于浙江大学医学院附属第一医院儿科。患儿有低钙抽搐、甲亢、身材矮小、智力异常、贫血和慢性中耳炎等多系统异常。染色体芯片检测结果显示22q11.21微缺失,缺失2 512 kb,基因组中位置18919095-21431174(hg19),诊断为DGS伴甲亢,予甲巯咪唑片(bid,起始为10 mg,2 d后改为5 mg)和补钙等对症治疗,血钙至正常范围后出院并继续口服甲巯咪唑片(5 mg,qd),出院3、6个月电话随访无抽搐发作。在PubMed中共检索到10篇英文文献报告了17例DGS合并甲亢患儿,病情不一,累及系统较多。结论 DGS临床表现多样,累及系统广泛,易误诊、漏诊和迟诊。对原发性甲状旁腺功能减退患儿,建议行染色体芯片分析并评估甲状腺功能。

DiGeorge syndrome complicated with hyperthyroidism: one case report and literature review

ObjectiveTo discuss the clinical manifestation of DiGeorge syndrome complicated with hyperthyroidism in a child to raise awareness of the disease.MethodsTo report a case of DGS complicated with hyperthyroidism symptoms, auxiliary examination results and peripheral blood genomic DNA chromosome microarray results, treatment and follow-up, by retrieving literatures of DGS combined with hyperthyroidism of child in CNKI and PubMed.The retrieval time was from the database was created to May 31, 2017.The relevance of clinical characteristics and cytogenetic abnormalities was summarized.ResultsA 12 years old girl visited the First Affiliated Hospital of Zhejiang University for "seizures occurred 2 times in one year, thyroid disorders for four months ".The Child has hypocalcemic tetany, hyperthyroidism, microsomia, mental abnormality, anemia, chronic otitis media and other diseases.The chromosome microarray detection showed 22q11.21 microdeletion, and the deletion size was 2512 kb ,the genome location was 18919095-21431174 (hg19), and was diagnosed as DGS complicated with hyperthyroidism.She was treated with thyrozol (Bid, started at 10 mg, then changed to 5 mg after 2 days), meanwhile, calcium supplementation and other symptomatic treatment were given.When the blood calcium reached the normal range, she was discharged.The patient was advised to continue treatment by thyrozol (5mg, qd, po) , and to be followed-up for the thyroid function, serum calcium and so on.In March and June, telephone follow-up was made for the child,and her parents complained no seizures after discharged.A total of 10 articles of English literatures were retrieved in PubMed, and 17 cases of DGS combined with hyperthyroidism were reported, the conditions were different, and more systems were involved.ConclusionDiGeorge syndrome had variable clinical manifestations and types, involving a wide range of systems.Therefore, it was difficult to diagnose clinically, prone to misdiagnosis, missed diagnosis and delayed diagnosis.The patients with primary parathyroid dysfunction should be inspected for routine chromosome microarray analysis and evaluated for the function of thyroid.