Radiological work-up in Peutz-Jeghers syndrome

Pediatr Radiol. 2003 Nov;33(11):766-71. doi: 10.1007/s00247-003-1031-5. Epub 2003 Sep 24.

Abstract

Background: The development of modern imaging studies such as high-resolution US and various MR imaging sequences have enabled their application to the examination of the gastrointestinal tract. OBJECTIVE. To compare radiological contrast studies, US and MRI in patients with Peutz-Jeghers syndrome (PJS).

Materials and methods: Ten members of two families were evaluated. The patients were divided into three groups according to the presence of perioral pigmentations and current clinical symptomatology. Patients were examined using US, MRI and radiological contrast studies.

Results: In the disease-free family members ( n=3), no pathological findings were found. In asymptomatic ( n=4) and symptomatic patients ( n=3), polyps were demonstrated using contrast studies in all cases. MRI demonstrated all the polyps. Ultrasound revealed the polyps in three out of six patients. In addition to the polyps, intussusceptions were shown. There was no evidence of malignant transformation on any of the studies.

Conclusions: Although PJS is a childhood or teenage disease, patients should be closely monitored during adulthood because of the development of gastrointestinal and extragastrointestinal malignancies. Contrast studies remain the gold standard. However, radiological follow-up could be undertaken by US or MRI, which would not impose a radiation burden during life-time follow-up.

MeSH terms

  • Adolescent
  • Adult
  • Case-Control Studies
  • Contrast Media
  • Female
  • Humans
  • Intussusception / diagnosis
  • Magnetic Resonance Imaging
  • Male
  • Peutz-Jeghers Syndrome / diagnosis*
  • Peutz-Jeghers Syndrome / diagnostic imaging
  • Peutz-Jeghers Syndrome / genetics
  • Ultrasonography

Substances

  • Contrast Media