Sforza E, Colamaria V, Lugaresi E
Neurological Institute, University of Bologna, Italy.
Acta Paediatr. 1994 Jul;83(7):794-6. doi: 10.1111/j.1651-2227.1994.tb13145.x.
We describe polygraphic respiratory alterations during sleep in a child with neurofibromatosis. The patient, a four-year-old boy, had a medical history of neurofibromatosis and recurrent acute respiratory failure responsive to mechanical ventilation. All-night polysomnography showed severe nocturnal hypoventilation with marked hypercapnia (TcPaCO2 70 mmHg) and hypoxemia (SaO2 less than 40%). Nocturnal hypoxemia and hypercapnia and depressed response to the hyperoxic hypercapnic test confirmed the diagnosis of central hypoventilation syndrome. Cerebral magnetic resonance imaging disclosed lucent areas in the globus pallidus, mesencephalus and left upper pons. Therapy with nocturnal nasal positive bilevel ventilation reversed nocturnal hypoxemia and hypercapnia. This study suggests that patients with neurofibromatosis should be investigated for concomitant severe hypoventilation, particularly when clinical symptoms suggest brain stem lesions.
我们描述了一名患有神经纤维瘤病的儿童睡眠期间的多导呼吸改变。该患者为一名4岁男孩，有神经纤维瘤病病史，反复出现急性呼吸衰竭，对机械通气有反应。整夜多导睡眠图显示严重的夜间通气不足，伴有明显的高碳酸血症（经皮动脉二氧化碳分压70 mmHg）和低氧血症（动脉血氧饱和度低于40%）。夜间低氧血症和高碳酸血症以及对高氧高碳酸血症试验的反应减弱证实了中枢性通气不足综合征的诊断。脑磁共振成像显示苍白球、中脑和左脑桥上部有透亮区。夜间经鼻双水平正压通气治疗逆转了夜间低氧血症和高碳酸血症。这项研究表明，对于神经纤维瘤病患者，应调查是否伴有严重通气不足，尤其是当临床症状提示脑干病变时。
