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

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.