婴儿甲状腺功能减退危象误诊分析  

Analysis of Misdiagnosis of Hypothyroidism Crisis in Infants

作　　者：郭玥 王卫凯[2] GUO Yue;WANG Weikai(Gansu Provincial Maternity and Child-Care Hospital/Gansu Provincial Central Hospital,Lanzhou 730070,China)

机构地区：[1]甘肃省妇幼保健院(甘肃省中心医院)心脏大血管外科,兰州730070 [2]甘肃省妇幼保健院(甘肃省中心医院)儿童急救中心,兰州730070

出　　处：《临床误诊误治》2024年第17期12-17,共6页Clinical Misdiagnosis & Mistherapy

基　　金：广州市合生元营养与护理研究院“母婴临床研究专项基金”(2021BINCLC001)。

摘　　要：目的探讨婴儿甲状腺功能减退危象的误诊原因,提高对本病的认识。方法回顾性分析2016至2019年先天性甲状腺功能减退症误诊5例的临床资料。结果5例中1例因反复皮肤黏膜黄染50余天就诊,外院误诊为婴儿高胆红素血症;1例因体质量不增、进行性腹胀3月余,不哭不闹,反应欠佳,纳奶欠佳2月余就诊,外院误诊为精神运动发育迟缓和重度营养不良;1例因腹泻8 d,外院误诊为新生儿肠炎;1例因皮肤黏膜和巩膜黄染2个月,入院后出现抽搐,误诊为高胆红素脑病;1例因纳奶欠佳伴精神欠佳1 d,抽搐2次,误诊为癫痫。5例后经甲状腺功能筛查确诊为甲状腺功能减退危象,误诊时间4 d~2月余,予左甲状腺素钠片等治疗,3例病情好转出院,1例放弃治疗,1例死亡。结论甲状腺功能减退危象是甲状腺功能减退症未经及时有效治疗进展至晚期阶段的一种罕见而危急的重症。儿童甲状腺功能减退症临床表现错综复杂且缺乏特异性,及时识别和治疗可明显改善预后。Objective To explore the causes of misdiagnosis of hypothyroidism crisis in infants and to improve the understanding of this disease.Methods The clinical data of 5 patients with congenital hypothyroidism misdiagnosed from 2016 to 2019 were retrospectively analyzed.Results Among the 5 patients,1 patient was misdiagnosed as hyperbilirubinemia in another hospital due to repeated skin and mucosal jaundice for more than 50 d.One patient presented with lack of weight gain,progressive abdominal distension for more than 3 months,no crying or fussing,poor response,inadequate milk intake for more than 2 months,and was misdiagnosed as delayed psychomotor developmental and severe malnutrition in another hospital.One patient was misdiagnosed as neonatal enteritis due to diarrhea for 8 d.One patient was diagnosed as hyperbilirubinemic encephalopathy due to jaundice of the skin,mucosa,and sclera for 2 months and convulsions after admission.One patient was misdiagnosed as epilepsy due to poor milk intake with poor mental state for 1 d and two convulsions.After thyroid function screening,5 patients were diagnosed as hypothyroidism crisis.The duration of misdiagnosis was 4 d-2 months,and they were treated with Levothyroxine Sodium tablets.Three patients were discharged from hospital with improved condition,1 patient gave up treatment,and 1 patient died.Conclusion Hypothyroidism crisis is a rare and critical condition of hypothyroidism progressing to the advanced stage without timely and effective treatment.The clinical manifestations of hypothyroidism in children are complicated and lack specificity;however,timely recognition and treatment can significantly improve the prognosis.

关 键 词：甲状腺功能减退症 甲状腺功能减退危象 婴儿 新生儿 误诊 高胆红素血症 营养不良 高胆红素脑病 癫痫 

分 类 号：R587.1[医药卫生—内分泌]