Congenital Central Hypoventilation Syndrome with Initial Symptom of Pulmonary Hypertension: Case Report and Literature Review

Abstract

目的：提高对先天性中枢性低通气综合征(CCHS)临床表现、诊断及治疗的认识。方法：分析总结1例于我院住院治疗的伴有肺动脉高压的CCHS患儿的临床资料，并进行文献复习。结果：患儿初次入院以肺动脉高压为首发症状，入院时面罩吸氧下氧饱和度难以维持正常，遂予机械通气，病情平稳后撤机出院，但患儿短时间内多次因呼吸道感染、低氧血症入院治疗，期间存在呼吸机撤机困难及夜间自主呼吸差等症状，除外肺部原发病以及神经肌肉功能障碍等疾病后，完善全外显子基因检测，PHOX2B基因存在变异，结合患儿临床表现及基因检测结果诊断为先天性中枢性低通气综合征，经无创正压通气及支持治疗后，患儿肺动脉压力下降明显，氧和可维持基本稳定，生活质量明显改善。结论：CCHS患儿经无创双水平正压通气治疗后可显著改善预后。 Objective: To describe the clinical characteristics of congenital central hypoventilation syndrome (CCHS) with pulmonary hypertension. Methods: We retrospectively analyzed a patient with CCHS who presented with pulmonary hypertension and review of the literature. Results: The patient presented with pulmonary hypertension at the time of first hospitalization, and echocardiogram revealed enlarged right ventricle and atrium, in spite of activity measures including mechanical ventilation and supportive treatment, the patient had persistent cyanosis and dyspnea, the patient proceeded with genetic testing. A genetic research was performed by polymerase chain reaction for CCHS screening, which showed the mutated allele of PHOX2B gene, confirming the diagnosis. After non-invasive positive pressure ventilation treatment, the patient thrived with normal growth and development. Conclusion: The present paper illustrates that the most effective and common method of treatment for CCHS is non-invasive bi-level positive pressure ventilation.