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Adult-onset congenital central hypoventilation syndrome due to PHOX2B mutation

Antoon Meylemans1, Pieter Depuydt2, Elfride De Baere3

  • 1Department of Neurology, Ghent University Hospital, C.-Heymanslaan 10, 9000, Ghent, Belgium. antoonmeylemans@gmail.com.

Acta Neurologica Belgica
|April 27, 2020
PubMed

Insights

Adult-onset congenital central hypoventilation syndrome (CCHS) is a rare, life-threatening condition. Genetic analysis confirmed CCHS in a 25-year-old woman, highlighting its importance in differential diagnoses.

Area of Science:

  • Medical Genetics
  • Pulmonology
  • Neurology

Background:

  • Central hypoventilation is a rare, severe condition affecting automatic breathing, primarily during sleep.
  • It is often secondary to brainstem lesions or other systemic diseases, but can rarely be congenital central hypoventilation syndrome (CCHS).

Observation:

  • A 25-year-old woman presented with severe central hypoventilation, triggered by analgesics.
  • This case highlights a rare manifestation of adult-onset CCHS.

Findings:

  • Genetic analysis revealed a heterozygous de novo poly-alanine repeat expansion of the PHOX2B gene, confirming adult-onset CCHS.
  • The patient was successfully managed with nocturnal non-invasive ventilation.
  • A literature review identified 21 genetically confirmed adult-onset CCHS cases.

Implications:

  • Adult-onset CCHS is a critical differential diagnosis for patients presenting with central hypoventilation.
  • Early diagnosis and management, such as non-invasive ventilation, are crucial to prevent severe respiratory complications.
Keywords:
AutonomicCentral congenital hypoventilation syndromeHirschsprung diseaseNeural crest tumoursPHOX2BPolyalanine repeat expansion mutation

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