One case of misdiagnosis of 22q11.2 deletion syndrome with ovarian mixed germ cell tumor / 中华内分泌代谢杂志

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.