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Published in: Pediatric Radiology 11/2003

01-11-2003 | Original Article

Radiological work-up in Peutz-Jeghers syndrome

Authors: Sebuh Kurugoglu, Hilmi Aksoy, Fatih Kantarci, Serap Cetinkaya, Ismail Mihmanli, Ugur Korman

Published in: Pediatric Radiology | Issue 11/2003

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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.
Literature
1.
go back to reference Finan MC, Ray MK (1989) Gastrointestinal polyposis syndromes. Dermatol Clin 7:419–434PubMed Finan MC, Ray MK (1989) Gastrointestinal polyposis syndromes. Dermatol Clin 7:419–434PubMed
2.
go back to reference Harned RK, Buck JL, Sobin LH (1995) Gastrointestinal polyposis syndromes: clinical and radiologic features. AJR Am J Roentgenol 164:565–571PubMed Harned RK, Buck JL, Sobin LH (1995) Gastrointestinal polyposis syndromes: clinical and radiologic features. AJR Am J Roentgenol 164:565–571PubMed
3.
go back to reference Lee JK, Marcos HB, Semelka RC (1998) MR imaging of the small bowel using the HASTE sequence. AJR Am J Roentgenol 170:1457–1463PubMed Lee JK, Marcos HB, Semelka RC (1998) MR imaging of the small bowel using the HASTE sequence. AJR Am J Roentgenol 170:1457–1463PubMed
4.
go back to reference Koppelmann S, Lorcher U, Keller KM, et al (2000) Peutz-Jeghers syndrome: new possibilities of noninvasive diagnosis. Klin Padiatr 212:332–335CrossRefPubMed Koppelmann S, Lorcher U, Keller KM, et al (2000) Peutz-Jeghers syndrome: new possibilities of noninvasive diagnosis. Klin Padiatr 212:332–335CrossRefPubMed
5.
go back to reference Buck JL, Harned RK, Lichtenstein JE, et al (1992) Peutz-Jeghers syndrome. Radiographics 12:365–378PubMed Buck JL, Harned RK, Lichtenstein JE, et al (1992) Peutz-Jeghers syndrome. Radiographics 12:365–378PubMed
6.
go back to reference Jenne DE, Reimann H, Nezu J, et al (1997) Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 18:38–43 Jenne DE, Reimann H, Nezu J, et al (1997) Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase. Nat Genet 18:38–43
7.
go back to reference Giardiello FM, Welsh SB, Hamilton SR, et al (1987) Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med 316:1511–1514PubMed Giardiello FM, Welsh SB, Hamilton SR, et al (1987) Increased risk of cancer in the Peutz-Jeghers syndrome. N Engl J Med 316:1511–1514PubMed
8.
go back to reference Boardman LA, Thibodeau SN, Schaid DJ, et al (1998) Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 128:896–899PubMed Boardman LA, Thibodeau SN, Schaid DJ, et al (1998) Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med 128:896–899PubMed
9.
go back to reference Harris JP, Munden MM, Minifee PK (2002) Sonographic diagnosis of multiple small-bowel intussusceptions in Peutz-Jeghers syndrome: a case report. Pediatr Radiol 32:681–683CrossRefPubMed Harris JP, Munden MM, Minifee PK (2002) Sonographic diagnosis of multiple small-bowel intussusceptions in Peutz-Jeghers syndrome: a case report. Pediatr Radiol 32:681–683CrossRefPubMed
10.
go back to reference Naganuma H, Ishida H, Konno K, et al (1999) Intussusception in Peutz-Jeghers syndrome: sonographic findings. Abdom Imaging 24:333–335CrossRefPubMed Naganuma H, Ishida H, Konno K, et al (1999) Intussusception in Peutz-Jeghers syndrome: sonographic findings. Abdom Imaging 24:333–335CrossRefPubMed
11.
go back to reference Sener RN, Kumcuoglu Z, Elmas N, et al (1991) Peutz-Jeghers syndrome: CT and US demonstration of small bowel polyps. Gastrointest Radiol 16:21–23PubMed Sener RN, Kumcuoglu Z, Elmas N, et al (1991) Peutz-Jeghers syndrome: CT and US demonstration of small bowel polyps. Gastrointest Radiol 16:21–23PubMed
12.
go back to reference Izzidien AY, Davies RA, Masoud AG, et al (2002) The use of ultrasound to demonstrate small bowel polyps in a patient with Peutz-Jeghers syndrome. Surg Endosc 16:715CrossRef Izzidien AY, Davies RA, Masoud AG, et al (2002) The use of ultrasound to demonstrate small bowel polyps in a patient with Peutz-Jeghers syndrome. Surg Endosc 16:715CrossRef
13.
go back to reference Walecki JK, Hales ED, Chung EB, et al (1984) Ultrasound contribution to diagnosis of Peutz-Jeghers syndrome. Pediatr Radiol 14:62–64PubMed Walecki JK, Hales ED, Chung EB, et al (1984) Ultrasound contribution to diagnosis of Peutz-Jeghers syndrome. Pediatr Radiol 14:62–64PubMed
14.
go back to reference Semelka RC, Marcos HB (2000) Polyposis syndromes of the gastrointestinal tract: MR findings. J Magn Reson Imaging 11:51–55CrossRefPubMed Semelka RC, Marcos HB (2000) Polyposis syndromes of the gastrointestinal tract: MR findings. J Magn Reson Imaging 11:51–55CrossRefPubMed
Metadata
Title
Radiological work-up in Peutz-Jeghers syndrome
Authors
Sebuh Kurugoglu
Hilmi Aksoy
Fatih Kantarci
Serap Cetinkaya
Ismail Mihmanli
Ugur Korman
Publication date
01-11-2003
Publisher
Springer-Verlag
Published in
Pediatric Radiology / Issue 11/2003
Print ISSN: 0301-0449
Electronic ISSN: 1432-1998
DOI
https://doi.org/10.1007/s00247-003-1031-5

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