Journal
JOURNAL OF CLINICAL SLEEP MEDICINE
Volume 10, Issue 3, Pages 327-329Publisher
AMER ACAD SLEEP MEDICINE
DOI: 10.5664/jcsm.3542
Keywords
Central sleep apnea; congenital central hypoventilation syndrome (CCHS); PHOX2B
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Funding
- Grants-in-Aid for Scientific Research [25461640] Funding Source: KAKEN
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Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by abnormal autonomic control of breathing resulting in hypoventilation. We report an infant girl with CCHS who presented with central sleep apnea, which was first demonstrated by polysomnography when the infant was 5 months old. She was heterozygous for the novel 590delG mutation of PHOX2B, which is classified as a non-polyalanine repeat mutation (NPARM). This mutation is considered to be associated with a relatively mild phenotype.
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