Abstract:

Objective: To discuss the clinical manifestation of DiGeorge syndrome complicated with hyperthyroidism in a child to raise awareness of the disease.Methods: To 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.Results: A 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.Conclusion: DiGeorge 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.