A Case of Nemaline Myopathy With Sleep-Related Hypoventilation Diagnosed Using Polysomnography During Daytime Napping

一例通过日间小睡期间的多导睡眠图诊断出的伴有睡眠相关性低通气的线粒体肌病病例

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Abstract

This is the case of a 49-year-old woman who was admitted to the hospital for a close examination of pulmonary hypertension; however, the next morning, she developed carbon dioxide (CO(2)) narcosis and was started on artificial ventilation. As pulmonary arterial hypertension was ruled out, the patient was extubated, and 24-hour transcutaneous partial pressure of carbon dioxide (PCO(2))(transcutaneous carbon dioxide (TcPCO(2))) monitoring was performed to diagnose sleep-related hypoventilation. Polysomnography (PSG) during daytime napping revealed markedly decreased chest motion and a "pseudo-central event," which was neither central nor obstructive hypopnea. Based on the PSG results and physical examination findings, a neuromuscular disorder was suspected, and a muscle biopsy was performed to diagnose nemaline myopathy. Neuromuscular diseases are widely recognized for their association with sleep-disordered breathing; thus, sleep-related hypoventilation should also be considered. Monitoring of TcPCO(2) and PSG are useful tools in identifying the cause of hypoventilation; however, overnight PSG may cause CO(2) narcosis in some diseases. In such cases, PSG may be beneficial during daytime napping.

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