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  

One case of misdiagnosis of 22q11.2 deletion syndrome with ovarian mixed germ cell tumor

作　　者：张钰旻 刘莉莉[1] 袁月星[1] 张丽华[2] 王尧[1] 孙子林[1] Yumin Zhang;Lili Liu;Yuexing Yuan;Lihua Zhang;Yao Wang;Zilin Sun(Department of Endocrinology,Zhongda Hospital,Southeast University,Nanjing 210000,China;Department of Pathology,Zhongda Hospital,Southeast University,Nanjing 210000,China)

机构地区：[1]东南大学附属中大医院内分泌科,南京210000 [2]东南大学附属中大医院病理科,南京210000

出　　处：《中华内分泌代谢杂志》2021年第12期1117-1120,共4页Chinese Journal of Endocrinology and Metabolism

基　　金：国家自然科学基金青年科学基金(81900773)。

摘　　要：特发性甲状旁腺功能减退症是一种罕见的内分泌疾病,常表现为神经精神症状,尤其是癫痫发作,因此在临床上容易被误诊为原发性癫痫。本文报道了1例长期被误诊断为原发性癫痫的17岁女性患者,因行卵巢混合性生殖细胞瘤手术期间发现甲状旁腺功能减退而就诊,经全外显子测序后明确诊断为22q11.2缺失综合征。本病例提示临床医师应关注青少年癫痫中甲状旁腺功能减退症的可能,尤其要考虑到遗传性甲状旁腺功能减退症的可能;与此同时,关注甲状旁腺以外的异常症状和体征,尤其是肿瘤的风险。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.

关 键 词：22q11.2缺失综合征 卵巢混合性生殖细胞瘤 特发性甲状旁腺功能减退症 癫痫 误诊 

分 类 号：R737.31[医药卫生—肿瘤] R596[医药卫生—临床医学]