One case of misdiagnosis of 22q11.2 deletion syndrome with ovarian mixed germ cell tumor
10.3760/cma.j.cn311282-20210302-00134
- VernacularTitle:一例迟发诊断22q11.2缺失综合征合并卵巢混合性生殖细胞瘤
- Author:
Yumin ZHANG
1
;
Lili LIU
;
Yuexing YUAN
;
Lihua ZHANG
;
Yao WANG
;
Zilin SUN
Author Information
1. 东南大学附属中大医院内分泌科，南京 210000
- Keywords:
22q11.2 deletion syndrome;
Ovarian mixed germ cell tumor;
Idiopathic hypoparathyroidism;
Epilepsy;
Misdiagnosis
- From:
Chinese Journal of Endocrinology and Metabolism
2021;37(12):1117-1120
- CountryChina
- Language:Chinese
-
Abstract:
Idiopathic hypoparathyroidism is a rare endocrine disease. It is often manifested as neuropsychiatric symptoms, especially epileptic seizures. Thus, it is easy to be misdiagnosed as primary epilepsy. The following case report details the diagnosis of a 17-year-old girl who had been misdiagnosed as primary epilepsy for a long time. She was found hypoparathyroidism during the hospitalization for the operation of ovarian mixed germ cell tumor. After whole exome sequencing, she was ultimately diagnosed as 22q11.2 deletion syndrome. This case suggested that clinicians should be aware of the possibility of hypoparathyroidism in adolescent epilepsy, especially hereditary hypoparathyroidism. At the same time, the possible high risk of tumors should also be considered in hereditary hypoparathyroidism.
