Ann Surg Treat Res.  2014 Jun;86(6):325-330. 10.4174/astr.2014.86.6.325.

Peutz-Jeghers syndrome with germline mutation of STK11

Affiliations
  • 1Department of Surgery, Catholic University of Daegu School of Medicine, Daegu, Korea. hdchae@cu.ac.kr
  • 2Department of Laboratory Medicine, Catholic University of Daegu School of Medicine, Daegu, Korea.

Abstract

Peutz-Jeghers syndrome (PJS), also known as periorificial lentiginosis, is a rare autosomal dominant inherited disease with an incidence of 1/200,000 live-borns. Mutations in the serine-threonine kinase 11 (STK11) gene are considered the major cause of PJS. The most frequent complication at young age is recurrent intussusception due to multiple hamartomatous polyps, primarily in the small intestine. Although extremely rare, the small bowel should be fully examined to be certain additional intussusceptions are not present. Herein, we report on a case of PJS with germline mutation of STK11 in a 12-year-old young girl who presented as a rare case of two small intestinal intussusceptions and review the literature.

Keyword

Peutz-Jeghers syndrome; Intussusceptions; STK11

MeSH Terms

Child
Female
Germ-Line Mutation*
Humans
Incidence
Intestine, Small
Intussusception
Lentigo
Peutz-Jeghers Syndrome*
Polyps
Protein-Serine-Threonine Kinases
Protein-Serine-Threonine Kinases
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