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Peutz-Jeghers' syndrome--juvenile intestinal polyposis--review of five cases
Insights
Peutz-Jeghers' syndrome patients often present with severe gastrointestinal polyposis and related complications. While polyps are typically benign hamartomas, diffuse forms can lead to fatal outcomes, underscoring the disease's challenges.
Area of Science:
- Gastroenterology
- Genetics
- Pediatric Surgery
Background:
- Peutz-Jeghers' syndrome (PJS) is a rare genetic disorder characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous pigmentation.
- PJS significantly increases the risk of various cancers, although the presented cases showed benign polyps.
Abstract:
During the past 30 years, authors observed and followed 5 patients with Peutz-Jeghers' syndrome. Four of them had diffuse polyposis of stomach, small bowel and colon. They also had severe clinical presentation of the disease, with recurring colicky pain, haemorrhage, anaemia and intussusception, all of which necessitated frequent surgical treatment. Excised polyps presented as benign hamartomas, without malignant alteration. Mucocutaneous pigmentations were present in 4 patients. Family history was revealing in only 2 cases. One patient, a girl aged 2 years, died due to the complications of the surgical intervention (intestinal obstruction). She has had the most severe form of the disease with diffuse polyposis.