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2014 ; 86
(6
): 325-30
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Peutz-Jeghers syndrome with germline mutation of STK11
#MMPMID24949325
Chae HD
; Jeon CH
Ann Surg Treat Res
2014[Jun]; 86
(6
): 325-30
PMID24949325
show ga
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.