Background: Peutz-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.
Conclusions: We 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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6507206 | PMC |
| http://dx.doi.org/10.1186/s12876-019-0987-z | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Evaluation of double-balloon enteroscopy in the management of type 1 small bowel vascular lesions (angioectasia): a retrospective cohort study.
BMC Gastroenterol
January 2025
Independent Researcher, İzmir, Turkey.
Background: Small-bowel angioectasia is commonly diagnosed and managed using double-balloon enteroscopy; however, rebleeding rates can vary significantly. This study aimed to identify and evaluate the clinical predictors of rebleeding in patients with small-bowel angioectasia.
Methods: This retrospective study focused on adult patients who underwent endoscopic management for small bowel vascular lesions (SBVLs).
Patency Capsule and Cross-Sectional Imaging for Predicting Capsule Endoscopy Retention: A Systematic Review and Meta-Analysis.
Dig Dis Sci
January 2025
Department of Pediatrics, University of Ulsan College of Medicine, Asan Medical Center Children's Hospital, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, Republic of Korea.
Aims: Small bowel capsule endoscopy, which has been widely used to evaluate small bowel disease, has a risk of capsule retention (CR). The present systematic review and meta-analysis evaluated the accuracy of patency capsule (PC) and cross-sectional imaging (CSI) for predicting CR.
Methods: Databases, including MEDLINE/PubMed, EMBASE, Web of Science and the Cochrane library, were searched for articles through August 15, 2023, that investigated the diagnostic accuracy of PC or CSI for predicting CR.
Clinical characteristics and management of reoperation for high jejunal atresia: a retrospective study.
Pediatr Surg Int
January 2025
Department of Neonatology, Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.
Objective: To analyze the clinical characteristics and available treatment strategies for reoperation of neonatal high jejunal atresia, and recommend preventive measures to reduce the reoperation rate of high jejunal atresia.
Methods: The clinical data of 16 children with high jejunal atresia who underwent reoperation in the Neonatal Surgery Department at Children's Hospital of Zhejiang University School of Medicine from January 2018 to January 2023 were retrospectively analyzed.
Results: Among the 16 unplanned reoperations, 7 (43.
[Crohn's disease complicated with squamous cell carcinoma originating from an enterocutaneous fistula:a case report].
Nihon Shokakibyo Gakkai Zasshi
January 2025
Department of Pathology, Yokohama Municipal Citizen's Hospital.
This case report describes Crohn's disease complicated by squamous cell carcinoma in an enterocutaneous fistula. A 48-year-old male patient was diagnosed with Crohn's disease 24 years ago and has undergone five surgical operations. An enterocutaneous fistula originated from the midline abdominal wound 11 years after the onset.
View Article and Find Full Text PDFPeripheral blood immune cells from individuals with Parkinson's disease or inflammatory bowel disease share deficits in iron storage and transport that are modulated by non-steroidal anti-inflammatory drugs.
Neurobiol Dis
January 2025
Center for Translational Research in Neurodegenerative Disease, College of Medicine, University of Florida, Gainesville, FL, USA; Department of Neuroscience, College of Medicine, University of Florida, Gainesville, FL, USA; McKnight Brain Institute, University of Florida, Gainesville, FL, USA; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, USA; Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, FL, USA. Electronic address:
Parkinson's Disease (PD) is a multisystem disorder in which dysregulated neuroimmune crosstalk and inflammatory relay via the gut-blood-brain axis have been implicated in PD pathogenesis. Although alterations in circulating inflammatory cytokines and reactive oxygen species (ROS) have been associated with PD, no biomarkers have been identified that predict clinical progression or disease outcome. Gastrointestinal (GI) dysfunction, which involves perturbation of the underlying immune system, is an early and often-overlooked symptom that affects up to 80 % of individuals living with PD.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!