Congenital central hypoventilation syndrome and Hirschsprung's disease

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Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
05:45

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5

Published on: April 26, 2019

G D Croaker1, E Shi, E Simpson

  • 1Royal Alexandra Hospital for Children, Sydney, Australia.

Archives of Disease in Childhood
|June 12, 1998
PubMed

Insights

The Hirschsprung's disease-congenital central hypoventilation syndrome (CCHS) association presents a distinct genetic condition. This association frequently involves severe Hirschsprung's disease and other congenital anomalies.

Area of Science:

  • Genetics
  • Pediatric Medicine
  • Gastroenterology

Background:

  • Hirschsprung's disease (HSCR) and congenital central hypoventilation syndrome (CCHS) are distinct conditions.
  • The co-occurrence of HSCR and CCHS suggests a potential shared genetic basis or association.

Purpose of the Study:

  • To characterize the clinical features and genetic implications of the HSCR-CCHS association.
  • To review existing literature and present new cases of this specific comorbidity.

Main Methods:

  • Case series presentation of five patients with HSCR-CCHS.
  • Comprehensive literature review of 41 previously published cases.

Main Results:

  • The HSCR-CCHS association exhibits a unique pattern of features, equal sex incidence, and disease severity, suggesting a distinct genetic entity.
  • While 1.5% of HSCR patients have CCHS, up to 50% of CCHS patients have HSCR.
  • Associated conditions include neuroblastoma (20%), ocular abnormalities, and autonomic nervous system dysfunction. Ventilatory issues are present from birth, and 59% have small bowel aganglionosis.

Conclusions:

  • The HSCR-CCHS association is a genetically distinct condition requiring specific diagnostic and management considerations.
  • Early identification of ventilatory abnormalities and HSCR is crucial for affected infants.
  • The high comorbidity with neuroblastoma underscores the need for vigilant monitoring.

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