先天性中枢性低通气综合征一例报告并文献复习

Congenital central hypoventilation syndrome: a case report and literature review

目的报告1例先天性中枢性低通气综合征(congenital central hypoventilation syndrome,CCHS),并复习文献,以提高对该病的认识和临床诊疗水平。方法对1例确诊为CCHS的患儿的临床资料和治疗情况进行总结,并结合文献资料进行分析。结果患儿男孩,生后当天以精神反应差起病,自主呼吸弱,反复撤机失败,基因检测证实存在Phox2b基因突变,确诊为CCHS。患儿熟睡时在呼吸机辅助呼吸(SIMV)下,基本无自主呼吸,DUOPAP辅助呼吸时,自主呼吸浅弱,胸壁活动弱,对CO2升高和血氧饱和度下降无呼吸增快及觉醒反应,家长要求终止治疗出院后13h死亡。结论对于持续存在的睡眠状态下通气不足、反复高碳酸血症、撤机失败,而无心、肺、神经肌肉功能障碍原发病,需考虑CCHS,Phox2b基因检测可作为CCHS的重要诊断手段。

Objective： Report an infant with central hypoventilation syndrome and review the related literature, to raise awareness on the CCHS and improve clinical diagnosis and treatment. Methods： Clinical data of an infant with CCHS and the related literature was collected and analyzed. Results： The infant was male, showed significant bad reaction and weak breathe after birth, with repeated weaning failure. A Phox2b mutation was indentified in this baby and confirmed as CCHS. Supported by ventilator when asleep, he al- most had no breathe. Supported by DUOPAP, he breathed weakly, his chest wall moved weakly, and he cannot be awaked by hyper- capnia and hypoxemia caused by hypoventilation. His parents asked for stopping theropy, and the baby died without ventilator in 13 hour. Conclusion： For babies who were repeated bruising, hypercapnia, and difficult- to -wean, but no primary diseases of heart, lung and neuromuscular dysfunction that lead to low ventilation, CCHS must be considered. Genetic testing of Phox2b can be used as an important diagnostic tool.