Related Experiment Videos
[Radiological aspect of Peutz-Jeghers syndrome: considerations on a case]
Insights
Peutz-Jeghers syndrome is a hereditable condition causing intestinal polyposis and characteristic melanin pigmentation. Radiological signs, including multiple polyps and intussusception, confirmed the diagnosis in a patient presenting with bleeding.
Area of Science:
- Gastroenterology
- Medical Genetics
Background:
- Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder.
- Characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous melanin pigmentation.
Observation:
- A 35-year-old male presented with abdominal pain and recurrent intestinal bleeding.
- Radiographic examination revealed multiple small bowel polyps and signs of intussusception.
Findings:
- Radiological findings definitively confirmed the diagnosis of Peutz-Jeghers syndrome.
- The case highlights the typical presentation of PJS with gastrointestinal complications.
Implications:
- Early diagnosis of Peutz-Jeghers syndrome is crucial for managing complications like intussusception and bleeding.
- Distinguishing PJS from other polyposis syndromes is important for appropriate patient management and genetic counseling.
Abstract:
The authors present their experience on a case of Peutz-Jeghers syndrome. Initially described in 1921, the association of intestinal polyposis with pigmentation of the skin and mucous membranes has been called the Peutz-Jeghers syndrome; the pigment, which is melanin, usually involves the lips and mouth and at times the face and extremities. The syndrome appears to be a hereditable disease. Polyps may be present in the stomach, small bowel and colon, but are most frequent in the small bowel, where they produce intussusception or bleeding. Our patient, a 35-year-old man, presented abdominal pain and recurrent intestinal bleeding. Our aim was to evidence radiological signs of this syndrome. the radiographic examination of small bowel, showing multiple polyps and signs of intussusception, definitely confirmed the diagnosis. The Authors finally discuss the possibility of other syndromes associated with gastrointestinal polyposis such as familial polyposis, Cronkhite-Canada syndrome, Gardner syndrome etc.