先天性变异型 Rett 综合征一例患者的通气不足和睡眠高碳酸血症。
Hypoventilation and sleep hypercapnia in a case of congenital variant-like Rett syndrome.
机构信息
Pediatric Pulmonology & Respiratory Intermediate Care Unit, Academic Department of Pediatrics; Clinical, management and technology innovation research area, Medical Direction, Bambino Gesù Children's Hospital IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.
University Department of Pediatrics, Bambino Gesù Children's Hospital IRCCS, University of Rome Tor Vergata, Rome, Italy.
出版信息
Ital J Pediatr. 2022 Sep 7;48(1):167. doi: 10.1186/s13052-022-01359-7.
BACKGROUND
Breathing disturbances are often a primary clinical concern especially during wakefulness of the classic form of Rett syndrome, but data for atypical forms are lacking.
CASE PRESENTATION
We report the case of a 20-month-old female affected by Rett syndrome with congenital variant-like onset, characterized by severe hypotonia and neurodevelopment impairment. She presented hypoventilation, persistent periodic breathing, and sustained desaturation during sleep, without obstructive or mixed events. Pulse oximetry and capnography during wakefulness were strictly normal. To the best of our knowledge, this is the first case of a patient affected by a congenital variant of Rett syndrome presenting sleep hypercapnia. Hypotonia may play a major role in the genesis of hypoventilation and hypoxemia in our patient. Non-invasive ventilation led to quality-of-life improvements.
CONCLUSIONS
Thus, we suggest screening patients with congenital-like Rett syndrome through transcutaneous bedtime carbon dioxide and oxygen monitoring. Moreover, assisted control mode was a breakthrough to achieve adequate ventilation in our case.
背景
呼吸障碍通常是经典雷特综合征患者清醒时的主要临床关注点，但缺乏非典型病例的数据。
病例介绍
我们报告了一例 20 个月大的女性雷特综合征病例，具有先天性变异样起病，表现为严重的肌张力低下和神经发育障碍。她在睡眠期间出现通气不足、持续周期性呼吸和持续低氧血症，无阻塞性或混合性事件。清醒时的脉搏血氧饱和度和二氧化碳描记法均完全正常。据我们所知，这是首例先天性变异型雷特综合征患者出现睡眠高碳酸血症的病例。在我们的患者中，低张力可能在通气不足和低氧血症的发生中起主要作用。无创通气改善了生活质量。
结论
因此，我们建议通过经皮睡前二氧化碳和氧气监测对先天性雷特综合征患者进行筛查。此外，辅助控制模式是在我们的病例中实现充分通气的突破。
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