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

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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.

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Abbreviations

ACG:

American College of Gastroenterology

BAE:

Balloon-assisted enteroscopy

CS:

Colonoscopy

EGD:

Esophagogastroduodenoscopy

DBE:

Double-balloon enteroscopy

GI:

Gastrointestinal

PJS:

Peutz–Jeghers syndrome

SBCE:

Small bowel capsule endoscopy

SD:

Standard deviation

STK11 :

Serine/threonine kinase 11

US:

Ultrasonography

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Acknowledgements

The authors would like to thank Dr. Yoshifumi Ogiso at Nagano Children’s Hospital for providing the pathological diagnosis. The authors also thank Yūka Miyajima and Trevor Ralph for their assistance in preparing the manuscript.

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Authors and Affiliations

  1. Department of Pediatrics, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto, Nagano, 390-8621, Japan

    Tomomitsu Sado, Yoshiko Nakayama, Sawako Kato, Hitoshi Homma, Mai Kusakari & Nao Hidaka

  2. Department of Surgery, Nagano Children’s Hospital, 3100 Toyoshina, Azumino, Nagano, Japan

    Suguru Gomi & Shigeru Takamizawa

  3. Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Nagano, Japan

    Tomoki Kosho

  4. Center for Medical Genetics, Shinshu University Hospital, Matsumoto, Nagano, Japan

    Tomoki Kosho

  5. Oncogene Research Unit/Cancer Prevention Unit, Tochigi Cancer Center Research Institute, Utsunomiya, Tochigi, Japan

    Shinya Saito & Kokichi Sugano

Authors
  1. Tomomitsu Sado
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  2. Yoshiko Nakayama
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  3. Sawako Kato
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  5. Mai Kusakari
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  9. Tomoki Kosho
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  10. Shinya Saito
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  11. Kokichi Sugano
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Contributions

Conceived and designed the experiments: YN. Investigation: TS, YN, SK, HH, MK, NH, SG, ST, TK, SS, and KS. Wrote the paper: TS and YN.

Corresponding author

Correspondence to Yoshiko Nakayama.

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Conflict of interest

Tomomitsu Sado, Yoshiko Nakayama, Sawako Kato, Hitoshi Homma, Mai Kusakari, Nao Hidaka, Suguru Gomi, Shigeru Takamizawa, Tomoki Kosho, Shinya Saito and Kokichi Sugano declare that they have no conflict of interest.

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All procedures followed have been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.

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Informed consent was obtained from all patients for being included in the study.

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Sado, T., Nakayama, Y., Kato, S. et al. Extremely young case of small bowel intussusception due to Peutz–Jeghers syndrome with nonsense mutation of STK11. Clin J Gastroenterol 12, 429–433 (2019). https://doi.org/10.1007/s12328-019-00964-0

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  • DOI: https://doi.org/10.1007/s12328-019-00964-0

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