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Peutz-Jeghers syndrome in pediatric patients: experience in a tertiary care institution in Mexico

Rodrigo Ortegón-Gallareta1, Rodrigo Vázquez-Frías1, Gerardo Blanco-Rodríguez2

  • 1Departamento de Gastroenterología y Nutrición.

Boletin Medico Del Hospital Infantil De Mexico
|December 8, 2022
PubMed

Insights

Peutz-Jeghers syndrome (PJS) is a rare inherited disorder. This study highlights PJS clinical features, including pigmentation and gastrointestinal polyps, emphasizing the need for early diagnosis and nutritional assessment.

Area of Science:

  • Gastroenterology
  • Genetics
  • Pediatric Medicine

Background:

  • Peutz-Jeghers syndrome (PJS) is an autosomal dominant inherited disorder.
  • Characterized by gastrointestinal polyps, mucocutaneous pigmentation, and increased cancer risk.

Purpose of the Study:

  • Analyze epidemiological, clinical, and histopathological data of pediatric PJS patients.
  • Describe PJS patient characteristics in a tertiary pediatric hospital setting.

Main Methods:

  • Retrospective observational study.
  • Involved epidemiological, clinical, endoscopic, and histological data collection.
  • Focused on patients treated in a Mexican tertiary pediatric hospital.

Main Results:

  • 13 cases analyzed (1.16:1 male-female ratio).
  • Common symptoms: abdominal pain, rectorrhagia.
  • Gastrointestinal polyps (hamartomatous, inflammatory, adenomatous) and mucocutaneous pigmentation observed.
  • High prevalence of emergency surgery due to intestinal obstruction.

Conclusions:

  • Key PJS manifestations: mucocutaneous pigmentation, abdominal pain, rectorrhagia.
  • Consider PJS in intestinal obstruction differential diagnosis.
  • Diagnosis not solely dependent on hamartomatous polyps.
  • Incorporate nutritional assessment due to malnutrition risk.
Abstract

Keywords:
IntussusceptionInvaginación intestinalPeutz-Jeghers syndromePoliposisPolyposisSíndrome de Peutz-Jeghers

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