Department of Anesthesia, Al Nahda Hospital, PO 937, PC 112 Ruwi, Muscat, Sultanate of Oman.
Can J Anaesth. 2011 Dec;58(12):1105-9. doi: 10.1007/s12630-011-9590-7. Epub 2011 Oct 12.
Prolonged postoperative hypoventilation presents a challenge to anesthesiologists with regard to assessing etiology and related treatment. We present a case of recurrent episodes of postoperative hypoventilation in a previously asymptomatic child after uneventful general anesthesia. In this case, the child eventually required lifelong ventilatory support during sleep.
A case of postoperative hypoventilation in a previously asymptomatic six-year-old child was investigated to determine the possible etiology. After uneventful general anesthesia for dental surgery, the child experienced recurrent episodes of hypoventilation associated with sleep. The child's lungs were mechanically ventilated due to failure of all trials of weaning. Clinical examination was unremarkable and laboratory investigations excluded the possibility of thyroid, hepatic, renal, and neuromuscular diseases. Computerized tomography, magnetic resonance imaging, and electroencephalogram studies were within normal limits. A negative pyridostigmine trial ruled out myasthenia. The child was finally diagnosed as having "late onset congenital central hypoventilation syndrome". Genetic testing revealed a PHOX2B mutation consistent with this diagnosis. The child was discharged home on mechanical ventilatory support during sleep.
Congenital central hypoventilation syndrome is a rare lifelong multisystem disorder which may occur during the neonatal period as a result of severe genetic mutation in the PHOX2B gene. In mild mutations, a triggering factor, such as sedation or anesthesia, may be required for the syndrome to manifest itself. These patients often require lifelong mechanical ventilatory support, particularly during sleep.
对于麻醉医生来说，术后长时间低通气是一个挑战，需要评估病因并进行相关治疗。我们报告了一例无症状儿童在全身麻醉后出现反复术后低通气的病例。在这种情况下，患儿最终需要在睡眠期间进行终身通气支持。
对一例无症状 6 岁儿童的术后低通气病例进行了调查，以确定可能的病因。在牙科手术全身麻醉后，患儿经历了与睡眠相关的反复低通气发作。由于所有脱机试验均失败，患儿的肺部需要机械通气。临床检查无明显异常，实验室检查排除了甲状腺、肝、肾和神经肌肉疾病的可能性。计算机断层扫描、磁共振成像和脑电图研究均在正常范围内。阴性吡啶斯的明试验排除了重症肌无力。最终患儿被诊断为“迟发性先天性中枢性低通气综合征”。基因检测显示 PHOX2B 基因突变与该诊断一致。患儿出院回家，睡眠时需要机械通气支持。
先天性中枢性低通气综合征是一种罕见的终身多系统疾病，可由 PHOX2B 基因突变引起，发生在新生儿期。在轻度突变中，可能需要镇静或麻醉等触发因素才能使该综合征表现出来。这些患者通常需要终身机械通气支持，尤其是在睡眠期间。
