Sleep Med Psychophysiol.  2007 Jun;14(1):49-53.

A Case of Mitochondrial Myopathy Showing Severe Hypoxemia during REM Sleep

• Kim JS
• Kim SK
• Lee SH
• Ahn JH
• Kim CH
• Moon HS

Abstract

Mitochondrial myopathy is characterized by variable clinical manifestations from mild limb weakness to fatal respiratory failure and central nervous system sequela. But it is a rare event that sleep disordered breathing become a clue of diagnosis for mitochondrial myopathy. We report a case of a 21 year-old man who was diagnosed as mitochondrial myopathy during the investigation for the possible cause of chronic hypoventilation syndrome. Before being admitted to our hospital, he was suspected as having sleep apnea syndrome in another hospital. We re-evaluated the history, physical examination, laboratoy findings and polysomnography in detail. Severe hypoxemia was noted during REM sleep on nocturnal polysomnography and the diagnosis of mitochondrial myopathy was made by muscle biopsy in rectus abdominis muscle. We treated him with bilevel positive airway pressure therapy during sleep and it could reverse the hypoxemia during REM sleep. He could be discharged with improved condition and is being well with the use of this ventilatory assistance.

Keyword

Mitochondrial myopathy; REM sleep; Hypoventilation; Hypoxemia

MeSH Terms

Anoxia*
Biopsy
Central Nervous System
Diagnosis
Extremities
Humans
Hypoventilation
Mitochondrial Myopathies*
Physical Examination
Polysomnography
Rectus Abdominis
Respiratory Insufficiency
Sleep Apnea Syndromes
Sleep, REM*
Young Adult