Peutz-Jeghers syndrome with germline mutation of STK11
Annals of Surgical Treatment and Research
;
: 325-330, 2014.
Article
in English
| WPRIM
| ID: wpr-152267
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Polyps
/
Peutz-Jeghers Syndrome
/
Incidence
/
Protein Serine-Threonine Kinases
/
Germ-Line Mutation
/
Intestine, Small
/
Intussusception
/
Lentigo
Type of study:
Incidence study
/
Prognostic study
Limits:
Child
/
Female
/
Humans
Language:
English
Journal:
Annals of Surgical Treatment and Research
Year:
2014
Type:
Article
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