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Hirschsprung's disease: a viral etiology?

P K Tam1, W G Quint, D van Velzen

  • 1Nuffield Department of Surgery, John Radcliffe Hospital, Oxford, United Kingdom.

Pediatric Pathology
|November 1, 1992
PubMed

Insights

Antenatal cytomegalovirus (CMV) infection may be a cause of Hirschsprung

Area of Science:

  • Pediatric Surgery
  • Infectious Diseases
  • Gastroenterology

Background:

  • Hirschsprung's disease (HD) is a congenital condition characterized by rectal aganglionosis.
  • The precise etiology of HD remains incompletely understood, with multiple factors suspected.
  • Antenatal cytomegalovirus (CMV) infection is a common congenital infection with diverse potential sequelae.

Purpose of the Study:

  • To investigate the potential etiological link between antenatal cytomegalovirus (CMV) infection and Hirschsprung's disease (HD).
  • To determine the prevalence of CMV genomes in bowel specimens from HD patients and control infants.

Main Methods:

  • Polymerase chain reaction (PCR) was employed to detect CMV genomes.
  • Bowel tissue specimens were analyzed from 72 HD patients, 144 control infants with Hirschsprung-like symptoms, and 36 control infants without gastrointestinal issues.

Main Results:

  • CMV genomes were detected in 6 out of 72 Hirschsprung's disease patients (8.8%).
  • No CMV genomes were found in any of the control infant groups.
  • This suggests a statistically significant association between CMV and HD.

Conclusions:

  • Antenatal cytomegalovirus infection may represent a contributing etiological factor in the development of Hirschsprung's disease.
  • Given that CMV infection is preventable, this finding has potential implications for HD prevention strategies.
  • Further research is warranted to elucidate the precise mechanisms linking CMV to HD pathogenesis.

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