Severe positional central sleep apnea in an asymptomatic adult with a PHOX2B frameshift mutation

Hennie C.J.P. Janssen, Anneke T. Vulto-van Silfhout, Marjolijn C.J. Jongmans, Annemieke H. van der Hout, Sebastiaan Overeem

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Scopus)


We report an unusual case of an adult patient carrying a germline PHOX2B frameshift mutation and hence was diagnosed with congenital central hypoventilation syndrome. He came to medical attention after the mutation was identified in his daughter who presented with hypoventilation and a neuroblastoma. Although PHOX2B mutations are usually associated with a phenotype of congenital hypoventilation, severe autonomic dysfunction and neural crest tumors, our patient had no complaints at the time of presentation. At polysomnography we found severe positional hypercapnic central sleep apnea, partly responsive to positional therapy. Eventually, he was titrated to noninvasive ventilation with resolution of the central breathing events and, in hindsight, a more refreshing sleep than before. Clinicians working in sleep medicine need to be aware of the variable expression of this rare condition to prevent late cardiorespiratory and neurocognitive complications.

Original languageEnglish
Pages (from-to)1427-1430
Number of pages4
JournalJournal of Clinical Sleep Medicine
Issue number8
Publication statusPublished - 15 Aug 2018


  • Congenital central hypoventilation syndrome
  • PHOX2B
  • Positional central sleep apnea
  • Mutation/genetics
  • Humans
  • Sleep Apnea, Central/complications
  • Male
  • Transcription Factors/genetics
  • Polysomnography
  • Posture
  • Homeodomain Proteins/genetics
  • Adult
  • Hypoventilation/complications


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