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An Immunofluorescent Method for Characterization of Barrett’s Esophagus Cells
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Barrett's esophagus and Cornelia de Lange Syndrome

Francesco Macchini1, Giorgio Fava, Angelo Selicorni

  • 1Pediatric Surgery Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milan, Italy. francesco.macchini@unimi.it

Acta Paediatrica (Oslo, Norway : 1992)
|May 12, 2010
PubMed

Insights

Cornelia de Lange Syndrome (CDLS) patients show a higher frequency of Barrett's Esophagus (BE) due to Gastro-oesophageal reflux disease (GERD). Delayed diagnosis and altered intestinal motility contribute to this increased risk.

Area of Science:

  • Gastroenterology
  • Genetics
  • Pediatrics

Background:

  • Cornelia de Lange Syndrome (CDLS) is a genetic disorder with various complications.
  • Gastro-oesophageal reflux disease (GERD) is a known comorbidity in CDLS patients.
  • Barrett's Esophagus (BE) is a potential complication of chronic GERD.

Purpose of the Study:

  • To investigate the prevalence of Barrett's Esophagus (BE) in children with Cornelia de Lange Syndrome (CDLS) who have Gastro-oesophageal reflux disease (GERD).

Main Methods:

  • A cohort of 62 CDLS patients (age range 1 month to 35 years) were evaluated for GERD.
  • Diagnostic methods included pH-metry, upper endoscopy with biopsies, and radiologic evaluation.
  • BE diagnosis was confirmed by intestinal metaplasia in the esophageal mucosa.

Main Results:

  • GERD was diagnosed in 50 CDLS patients (80%).
  • BE was identified in 6 of these patients (9.6% of all CDLS patients).
  • One patient with BE progressed to esophageal adenocarcinoma.

Conclusions:

  • CDLS patients exhibit a higher incidence of BE compared to the general population.
  • Atypical GERD symptoms and neurological impairment affecting intestinal motility may lead to delayed BE diagnosis in CDLS.
  • Regular endoscopic surveillance is crucial for early detection and management of BE in CDLS.
Abstract

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