以反复抽搐为主要表现的特发性甲状旁腺功能减退症患儿1例并文献复习

Idiopathic hypoparathyroidism with recurrent convulsions as the main manifestation:a case and literature review

特发性甲状旁腺功能减退症为一种罕见的内分泌疾病,临床表现复杂多样,易漏诊误诊。本文报道1例以反复抽搐为主要表现,实验室检查提示血清钙及甲状旁腺激素降低、颅脑钙化,最终诊断为特发性甲状旁腺功能减退症的患儿;后期使用钙剂及维生素D衍生物治疗有效。同时对国内外相关文献进行了复习和总结,旨在提醒临床医师重视高危人群筛查,尤其是对于不明原因反复抽搐的患儿,需警惕特发性甲状旁腺功能减退症;及时完善相关检查,并关注其治疗,治疗期间应定期复查血钙、血磷及24 h尿钙。

Idiopathic hypoparathyroidism is a rare endocrine disease with complex and has diverse clinical manifestations,which is easily missed and misdiagnosed.This article reports a child with recurrent convulsions as the main manifestation,laboratory examinations suggesting decreased serum calcium and parathyroid hormone,craniocerebral calcification,and the final diagnosis of idiopathic hypoparathyroidism.The use of calcium and vitamin D derivatives in the later period is effective in treatment.At the same time,the relevant domestic and foreign literature were reviewed and summarized to remind clinicians to pay attention to screen of high-risk population.Especially for children with unexplained recurrent convulsions,it is necessary to be alert to idiopathic hypoparathyroidism,improve relevant examinations in time and pay attention to its treatment.During treatment,blood calcium,blood phosphorus and 24-hour urine calcium should be detected regularly.