颜湘　向龙

[关键词] 特发性甲状旁腺功能减退症;血清钙; 抽搐;误诊

[中图分类号] R582.2          [文献标识码] B          [文章编号] 1673-9701（2021）17-0139-04

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

YAN Xiang   XIANG Long

Department of Pediatrics， Chengdu First People's Hospital， Chengdu   610016， China

[Abstract] 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.

[Key words] Idiopathic hypoparathyroidism; Serum calcium; Convulsions; Misdiagnosis

甲狀旁腺功能减退症（hypoparathyroidism，HPH），是指甲状旁腺激素（parathyroid hormone， PTH）分泌减少和（或）功能障碍引起的临床综合征，可表现为乏力、手足搐搦，严重者出现抽搐、智力低下、颅内钙化等[1-3]。

根据病因分为特发性、继发性和假性HPH。其中继发性HPH最常见[4]，多为甲状腺手术误伤所致;假性HPH为遗传缺陷性疾病;而特发性甲状旁腺功能减退症（idiopathic hypoparathyroidism，IHP）是一种较为罕见的内分泌疾病，其发生与遗传、免疫功能异常有关[5]。在国外IHP发病率报道不一，约为0.7/100000～5.0/100000[6];而中国的发病率仅为（0.55～0.88）/100000[7]。

由于IHP发病率低、临床表现复杂，易漏诊误诊延误治疗，给社会和家庭造成极大负担。但IHP是可以治疗的疾病，早发现、早诊断、早治疗可避免远期并发症，极大改善患儿生活质量及生存率。因此本文将对1例以反复抽搐为主要表现的IHP患儿的临床资料进行总结分析并对国内外相关文献进行复习，以期提高临床医生对该病的认识。

1 病例介绍

现病史：患儿女，12岁10月，因“反复抽搐20余次”于2017年10月26日 16：03收入成都市第一人民医院儿科。患儿于2017年5月27日首次出现抽搐，此后反复抽搐10余次，未引起重视，2017年10月23日开始发作频繁，约8～9次/d，表现为意识丧失、口唇发绀、面色苍白、双目凝视、牙关紧闭、四肢强直抖动，伴流涎，无大小便失禁，无尖叫，持续约几分钟后可恢复。抽搐前有头痛、眩晕、心慌、肢端麻木发凉。病程中无发热，无咳嗽，无流涕、喷嚏，无乏力及四肢肌肉酸痛，无行走困难，无胸闷胸痛，无大汗淋漓，无呕吐，无慢性腹泻史。……