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Late onset congenital central hypoventilation syndrome after exposure to general anesthesia

Abdul Kader M Mahfouz1, Mohammed Rashid, Mohammed S Khan

  • 1Department of Anesthesia, Al Nahda Hospital, PO 937, PC 112 Ruwi, Muscat, Sultanate of Oman. abdulkaderm2000@hotmail.com

Canadian Journal of Anaesthesia = Journal Canadien D'Anesthesie
|October 13, 2011
PubMed

Insights

A child developed late-onset congenital central hypoventilation syndrome after general anesthesia, requiring lifelong ventilatory support during sleep. This rare disorder is linked to PHOX2B gene mutations and can be triggered by anesthesia.

Area of Science:

  • Anesthesiology
  • Pediatrics
  • Genetics

Background:

  • Prolonged postoperative hypoventilation poses diagnostic and therapeutic challenges for anesthesiologists.
  • Congenital central hypoventilation syndrome (CCHS) is a rare, lifelong disorder often diagnosed neonatally due to severe PHOX2B mutations.

Observation:

  • A previously asymptomatic child experienced recurrent postoperative hypoventilation after uneventful general anesthesia for dental surgery.
  • Despite extensive investigations ruling out other conditions, the child required mechanical ventilation during sleep.
  • Genetic testing confirmed a PHOX2B mutation, leading to a diagnosis of late-onset CCHS.

Findings:

  • Mild PHOX2B mutations in CCHS may manifest later in life, potentially triggered by factors like sedation or anesthesia.
  • The case highlights that CCHS can present in previously asymptomatic children, not exclusively in the neonatal period.
  • Lifelong mechanical ventilatory support, especially during sleep, is often necessary for patients with CCHS.

Implications:

  • Anesthesiologists should consider CCHS in children with unexplained postoperative hypoventilation, particularly after anesthesia.
  • Early genetic testing for PHOX2B mutations is crucial for diagnosing CCHS and guiding management.
  • This case underscores the importance of recognizing late-onset CCHS and its lifelong implications for patient care.
Abstract

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