CAJ | 학술논문

目的探讨1例迟发性中枢性低通气综合征患儿的临床特征及治疗特点.方法对首都医科大学附属北京儿童医院呼吸科诊断的1例迟发性中枢性低通气综合征患儿的临床特点、诊断及治疗过程进行回顾性分析,并进行相关文献复习.结果患儿男,9岁,在一次肺炎、呼吸衰竭、心力衰竭、肺动脉高压时行气管插管、机械通气.在病情稳定后出现拔管困难,表现为清醒时呼吸运动好,血氧好,但入睡后即出现呼吸运动幅度减低,持续低氧血症和CO2潴留,经多导睡眠监测及同步整夜经皮CO2监测,诊断为中枢性低通气综合征.结合其3岁后迅速出现肥胖,头颅磁共振成像未见异常表现,遗传代谢病筛查未见异常,故诊断为迟发性中枢性低通气综合征.给予经鼻面罩的双水平正压通气治疗,患儿使用呼吸机时,血氧正常,CO2降低至清醒时水平.1年后再次复诊,患儿头颅磁共振成像未见异常,肺动脉高压消失,清醒时及治疗中经皮CO2水平较1年前下降.结论迟发性中枢性低通气综合征2岁以后起病,表现为清醒时呼吸正常,而入睡后出现持续低氧血症和CO2潴留,严重病例需要呼吸支持.经气管切开机械通气以及双水平正压通气是治疗严重迟发性中枢性低通气综合征的主要呼吸支持方法.
목적 탐토1례지발성중추성저통기종합정환인적림상특정급치료특점.방법 대수도의과대학부속북경인동의원호흡과진단적1례지발성중추성저통기종합정환인적림상특점、진단급치료과정진행회고성분석,병진행상관문헌복습.결과 환인남,9세,재일차폐염、호흡쇠갈、심력쇠갈、폐동맥고압시행기관삽관、궤계통기.재병정은정후출현발관곤난,표현위청성시호흡운동호,혈양호,단입수후즉출현호흡운동폭도감저,지속저양혈증화CO2저류,경다도수면감측급동보정야경피CO2감측,진단위중추성저통기종합정.결합기3세후신속출현비반,두로자공진성상미견이상표현,유전대사병사사미견이상,고진단위지발성중추성저통기종합정.급여경비면조적쌍수평정압통기치료,환인사용호흡궤시,혈양정상,CO2강저지청성시수평.1년후재차복진,환인두로자공진성상미견이상,폐동맥고압소실,청성시급치료중경피CO2수평교1년전하강.결론 지발성중추성저통기종합정2세이후기병,표현위청성시호흡정상,이입수후출현지속저양혈증화CO2저류,엄중병례수요호흡지지.경기관절개궤계통기이급쌍수평정압통기시치료엄중지발성중추성저통기종합정적주요호흡지지방법.
Objective To investigate clinical features and therapeutic methods of late-onset central hypoventilation syndrome.Method A nine-year old boy was trachea-intubated and mechanically ventilated because of pneumonia,respiratory and heart failure and pulmonary hypertension.It was found that hard to extubate the patient as he was breathing normally while awake but had shallow breathing,oxygen desaturation and CO2 retention when falling asleep.Nocturnal polysomnography together with transcutaneous CO2 supported the diagnosis of central hypoventilation.The final diagnosis was late-onset congenital central hypoventilation syndrome as the patient gained weight rapidly since 3 years of age and the brain magnetic resonance imaging (MRI) and genetic screening were unremarkable.Result The patient was treated with bi-level positive air pressure ventilation via nasal mask which showed good oxygen saturation and CO2 dropped down.The follow up study done one year later showed normal brain MRI,relief of pulmonary hypertension and better CO2 level in both awaken and sleeping status.Conclusion The late-onset congenital central hypoventilation syndrome in this case had onset of symptoms at 2 years of age,he had normal breathing while he was awake but had oxygen desaturation and CO2 retention during sleep,therefore,respiratory support is required in severe cases.Mechanical ventilation via tracheotomy and non-invasive ventilation via mask are the major choice.