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Severe Positional Central Sleep Apnea in an Asymptomatic Adult With a PHOX2B Frameshift Mutation

Hennie C J P Janssen1, Anneke T Vulto-van Silfhout2, Marjolijn C J Jongmans2,3

  • 1Sleep Medicine Center Kempenhaeghe, Heeze, The Netherlands.

Journal of Clinical Sleep Medicine : JCSM : Official Publication of the American Academy of Sleep Medicine
|August 11, 2018
PubMed

Insights

Adults with congenital central hypoventilation syndrome (CCHS) due to PHOX2B mutations may present with sleep apnea. Early diagnosis and noninvasive ventilation can improve sleep quality and prevent complications.

Area of Science:

  • Genetics
  • Sleep Medicine
  • Pediatrics

Background:

  • Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder.
  • PHOX2B gene mutations are the primary cause of CCHS.
  • CCHS typically presents in infancy with hypoventilation and autonomic dysfunction.

Observation:

  • An adult patient with a PHOX2B frameshift mutation was diagnosed with CCHS.
  • The mutation was identified after his daughter presented with hypoventilation and neuroblastoma.
  • The patient initially had no symptoms but polysomnography revealed severe positional hypercapnic central sleep apnea.

Findings:

  • The patient's sleep apnea was partially responsive to positional therapy.
  • Noninvasive ventilation resolved central breathing events and improved sleep quality.
  • This case highlights variable expressivity of PHOX2B mutations.

Implications:

  • Clinicians must recognize the diverse presentations of CCHS in adults.
  • Awareness of PHOX2B mutation variability is crucial for timely diagnosis.
  • Early intervention can prevent severe cardiorespiratory and neurocognitive issues in affected individuals.

Keywords:
NPARMPHOX2Bcongenital central hypoventilation syndromepositional central sleep apnea

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