ArticleBMC gastroenterology2019
Early screening the small bowel is key to protect Peutz-Jeghers syndrome patients from surgery: a novel mutation c.243delG in STK11 gene.
Article in BMC gastroenterology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 15 citations in OpenAlex.
- The Role of Video Capsule Endoscopy in Hereditary Polyposis Syndromes: A Narrative Review.Diagnostics (Basel, Switzerland) · 2025Review
- Intussusception Caused by Peutz-Jeghers Syndrome.Cureus · 2022Article
- Delayed diagnosis of Peutz-Jeghers syndrome due to pathological information loss or mistake in family/personal history.Orphanet journal of rare diseases · 2021Article
- Intestinal obstruction with oral pigmentation: a clue to Peutz-Jeghers syndrome.BMJ case reports · 2021Article
- Implications of Splicing Alterations in the Onset and Phenotypic Variability of a Family with Subclinical Manifestation of Peutz-Jeghers Syndrome: Bioinformatic and Molecular Evidence.International journal of molecular sciences · 2020Article
- Primary experience of small bowel polypectomy with balloon-assisted enteroscopy in young pediatric Peutz-Jeghers syndrome patients.European journal of pediatrics · 2020Article
- Malignant tumors associated with Peutz-Jeghers syndrome: Five cases from a single surgical unit.World journal of clinical cases · 2020Article
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundPeutz-Jeghers syndrome (PJS) is a Mendelian disease, whose causative gene is STK11, mainly characterized by gastrointestinal polyposis and increased cancer risk. Clinical observation reveals intussusception in childhood are more frequent and severe than in adults, and it is difficult to prevent this knotty complication. CASE PRESENTATION: A boy without a positive family history grew oral MP after birth and developed abdominal pain and bloody stood at 7 years old. Endoscopy revealed multiple polyps within the colon and the ileum, and endoscopic polypectomy and regular surveillance protected him from severe complications and open surgeries. A heterozygous deletion in STK11, c.243delG, was detected in the proband but not in his parents. This mutation has not been documented in databases.
conclusionsWe suspect a child of PJS may need a more thorough endoscopic examination including enteroscopy or capsule endoscopy to take care of small bowel when PJS related symptoms comes up.
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