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Congenital central hypoventilation syndrome and hypoglycaemia

Maria I Farina1, Roberto Scarani, Chiara Po'

  • 1Pediatric Pain and Palliative Care Service, Department of Pediatrics, University of Padua, Italy. mfarina@pediatria.unipd.it

Acta Paediatrica (Oslo, Norway : 1992)
|November 23, 2011
PubMed

Insights

Congenital central hypoventilation syndrome (CCHS) can involve severe hypoglycemia and hyperinsulinemia. This suggests a potential link between CCHS and impaired dopamine-beta-hydroxylase function in affected children.

Area of Science:

  • Pediatric Endocrinology
  • Neurogenetics
  • Respiratory Medicine

Background:

  • Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder affecting autonomic breathing control.
  • CCHS often presents with autonomic nervous system dysregulation in infants.
  • Impaired autonomic function in CCHS can manifest in various ways, including respiratory and metabolic disturbances.

Observation:

  • Three children with CCHS experienced severe hypoglycemia and hyperinsulinemia.
  • These metabolic disturbances occurred alongside the typical respiratory challenges of CCHS.
  • The study explored potential underlying mechanisms for these co-occurring conditions.

Findings:

  • A possible association between CCHS and impaired dopamine-beta-hydroxylase (DBH) function was investigated.
  • DBH is crucial for converting dopamine to norepinephrine, impacting autonomic regulation.
  • The findings suggest a potential link between DBH dysfunction and the observed metabolic issues in CCHS.

Implications:

  • Hypoglycemia and hyperinsulinemia should be considered in CCHS patients presenting with seizures and hyperhidrosis.
  • Early identification of these metabolic complications can guide clinical management.
  • Further research is warranted to elucidate the precise relationship between CCHS, DBH function, and metabolic dysregulation.
Abstract

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