| 摘要: |
| 目的:探讨1 例Costello 综合征的诊治经验,提高儿科医师对该病的认识。方法:回顾性分析1 例新生儿期起病的
Costello 综合征的临床资料,并复习相关文献。结果:早产儿因“呼吸困难、腹胀42 d”转诊至深圳市儿童医院,以房性心律失常、
呼吸机依赖、特殊面容、肌张力低下为主要临床表现。基因检测发现HRAS 基因c. 34G>A(p. G12S),为杂合新生致病性突变,确
诊Costello 综合征。经过地高辛、普罗帕酮、普萘洛尔、索他洛尔等抗心律失常治疗,心律好转,成功撤离呼吸机。但家属因考虑
预后不良放弃治疗,出院后1 天频发房性期前收缩,死于心源性休克。结论:对于心律失常患儿,合并喂养困难,特殊面部及皮
肤外观,需要尽快完善基因检测明确诊断,并监测心电图及心脏彩超,根据心律情况调整抗心律失常药物治疗方案,心脏受累是
其预后的决定因素。 |
| 关键词: Costello 综合征 新生儿 HRAS 基因 心律失常 |
| DOI：doi:10.13407/j.cnki.jpp.1672-108X.2023.04.012 |
|
| 基金项目:深圳市科创委基础研究项目,编号JCYJ20190809173419560。 |
|
| A Case of Newborn Costello Syndrome with Refractory Atrial Tachycardia as Major Manifestation |
| Yang Hui, Wu Yemei, Chen Limei, Sun Xiaojie, Jiang Jingbo |
| ((Shenzhen Children’s Hospital, Guangdong Shenzhen
518038, China)) |
| Abstract: |
| Objective: To investigate the diagnostic and treatment experience of a Costello syndrome case, so as to arouse pediatric
practitioner’s concern of the disease, make early diagnosis, reasonable treatment and improve prognosis. Methods: The clinical data of
a case of Costello syndrome were retrospectively analyzed and the related literatures were reviewed. Results: Atrial arrhythmia, ventilator
dependence, special facial and skin appearance were the main clinical manifestations of a prematurity transferred to Shenzhen Children’s
Hospital due to “dyspnea and abdominal distension for 42 days”. A heterozygous novel de novo pathogenic variant (c. 34gG> A) in HRAS
was detected by high-throughput sequencing of the whole exome. Then Costello syndrome was diagnosed. Digoxin, propafenone,
propranolol, sotalol and other anti-arrhythmic drugs were administrated to control the arrhythmia. The ventricular rate was improved slightly
and the ventilator was successfully evacuated. However, due to poor prognosis, family members gave up treatment, and one day after
discharge, the patient had frequent atrial premature contractions and died of cardiogenic shock. Conclusion: Gene diagnosis, ECG, and
cardiac color doppler ultrasound are essential for children with arrhythmia, feeding difficulties, special facial and skin appearance.
Antiarrhythmic treatment should be adjusted according to heart rate, and cardio-involvement is the determinant of prognosis. |
| Key words: Costello syndrome newborn HRAS arrhythmia |
