Extremely young case of small bowel intussusception due to Peutz–Jeghers syndrome with nonsense mutation of STK11 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-03-19

AUTHORS

Tomomitsu Sado, Yoshiko Nakayama, Sawako Kato, Hitoshi Homma, Mai Kusakari, Nao Hidaka, Suguru Gomi, Shigeru Takamizawa, Tomoki Kosho, Shinya Saito, Kokichi Sugano

ABSTRACT

Intussusception is a frequent and severe complication of Peutz-Jeghers syndrome (PJS). We herein present the case of a 3-year-old girl who experienced jejuno-jejunal intussusception due to PJS polyps. Despite no apparent family history of PJS, she had exhibited mucocutaneous pigmentation since infancy and recurrent abdominal pain and vomiting from 2 years of age. Segmental resection of the jejunum during emergency laparotomy for the intussusception revealed multiple hamartomatous polyps. Genetic analysis uncovered a germline nonsense mutation of c.247A>T in exon 1 of serine/threonine kinase 11 (STK11). Biannual follow-up surveillance for polyps by esophagogastroduodenoscopy, colonoscopy, and small bowel capsule endoscopy is ongoing. Reports describing the clinical and genetic features of extremely young PJS with intussusceptions are rare, although a literature review of STK11 germline mutations revealed several other pediatric cases of complicating intussusception at ≤ 8 years old. Considering the recent advances in surveillance and treatment options for the small bowel, earlier management of symptomatic children with PJS may be warranted to avoid surgical emergency. More... »

PAGES

1-5

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s12328-019-00964-0

DOI

http://dx.doi.org/10.1007/s12328-019-00964-0

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1112861104

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30888642


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31 schema:description Intussusception is a frequent and severe complication of Peutz-Jeghers syndrome (PJS). We herein present the case of a 3-year-old girl who experienced jejuno-jejunal intussusception due to PJS polyps. Despite no apparent family history of PJS, she had exhibited mucocutaneous pigmentation since infancy and recurrent abdominal pain and vomiting from 2 years of age. Segmental resection of the jejunum during emergency laparotomy for the intussusception revealed multiple hamartomatous polyps. Genetic analysis uncovered a germline nonsense mutation of c.247A>T in exon 1 of serine/threonine kinase 11 (STK11). Biannual follow-up surveillance for polyps by esophagogastroduodenoscopy, colonoscopy, and small bowel capsule endoscopy is ongoing. Reports describing the clinical and genetic features of extremely young PJS with intussusceptions are rare, although a literature review of STK11 germline mutations revealed several other pediatric cases of complicating intussusception at ≤ 8 years old. Considering the recent advances in surveillance and treatment options for the small bowel, earlier management of symptomatic children with PJS may be warranted to avoid surgical emergency.
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