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

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 infan...

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Bibliographic Details
Published in:Clinical journal of gastroenterology 2019-10, Vol.12 (5), p.429-433
Main Authors: Sado, Tomomitsu, Nakayama, Yoshiko, Kato, Sawako, Homma, Hitoshi, Kusakari, Mai, Hidaka, Nao, Gomi, Suguru, Takamizawa, Shigeru, Kosho, Tomoki, Saito, Shinya, Sugano, Kokichi
Format: Article
Language:English
Subjects:
Abdominal Surgery
Case Report
Child, Preschool
Codon, Nonsense
Colorectal Surgery
Female
Gastroenterology
Hepatology
Humans
Intussusception - diagnostic imaging
Intussusception - etiology
Jejunal Diseases - diagnostic imaging
Jejunal Diseases - etiology
Medicine
Medicine & Public Health
Peutz-Jeghers Syndrome - complications
Peutz-Jeghers Syndrome - genetics
Protein-Serine-Threonine Kinases - genetics
Surgical Oncology
Ultrasonography
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Summary: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.
ISSN:1865-7257
1865-7265
DOI:10.1007/s12328-019-00964-0