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Intestinal intussusception in a child with Peutz-Jeghers syndrome: case report
Denys Ovechkin1, Wireko Andrew Awuah1, Jack Wellington2
1Sumy State University, Sumy, Ukraine.
Insights
Peutz-Jeghers syndrome (PJS) is an inherited disorder causing intestinal polyps and increased cancer risk. This case highlights a child
Area of Science:
- Genetics and Hereditary Diseases
- Gastroenterology
- Pediatric Surgery
Background:
- Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder characterized by mucocutaneous pigmentations and hamartomatous gastrointestinal polyps.
- PJS significantly increases the risk of various gastrointestinal, genitourinary, and extracolonic malignancies.
- Intestinal obstruction, particularly intussusception, is a critical complication in young PJS patients.
Purpose of the Study:
- To present a clinical case of a 5-year-old patient with a complicated course of Peutz-Jeghers syndrome.
- To emphasize the diagnostic and surgical management of acute abdomen in pediatric PJS.
- To review current understanding of PJS etiology, diagnosis, and management, focusing on cancer screening.
Main Methods:
- Case report of a 5-year-old patient with PJS.
- Clinical examination, laboratory tests (hemoglobin, red blood cell count), and imaging (ultrasonography).
- Endoscopic evaluation (fibroesophagogastroduodenoscopy) and histopathological analysis of polyps.
- Surgical intervention (laparotomy, manual disinvagination) and conservative postoperative care.
Main Results:
- The patient presented with severe iron deficiency anemia and characteristic mucocutaneous pigmentations.
- Endoscopy revealed duodenopathy and gastric polyposis; ultrasonography diagnosed acute intestinal intussusception.
- Histopathology confirmed hamartomatous polyps with smooth muscle hyperplasia and MIB-1 positivity.
- Successful surgical reduction of intussusception with intact gut viability; patient discharged 9 days postoperatively.
Conclusions:
- Early diagnosis and prompt surgical intervention are crucial for managing acute complications like intussusception in pediatric PJS.
- Long-term surveillance and cancer screening are essential for PJS patients due to their high malignancy risk.
- This case underscores the importance of a multidisciplinary approach in managing hereditary gastrointestinal syndromes in childhood.
Abstract:
Peutz-Jeghers syndrome (PJS), an uncommon inherited autosomal dominant disorder, is distinguished by mucocutaneous pigmentations, many gastrointestinal hamartomatous polyps, and a higher incidence of gastrointestinal tract, genitourinary, and extracolonic malignancies. Recurrent acute intestinal obstruction, in particular intussusception in the young, is a serious sequalae of PJS.
Case Presentation:
A clinical observation of a 5-year-old patient with a complicated course of PJS is presented. Emphasis on recurring episodes of acute abdomen, clinical diagnosis including polyp histopathology, and surgical management is emphasised.
Clinical Findings And Investigations:
While an inpatient, bloodwork demonstrated severe iron deficiency anaemia (haemoglobin 72 g/l, red blood cell 3.1×1012/l) and multiple melanin pigmentations measuring 2-4 mm in size on the lip mucosa during a physical examination. Erosive duodenopathy and polyposis of the stomach were discovered via fibroesophagogastroduodenoscopy (multiple gastric polyps 5-10 mm in size). Acute intussusception of the intestine was discovered by ultrasonography.
Interventions And Outcome:
A mid-median laparotomy was performed alongside manual disinvagination with gut viability intact. Histopathology of excised polyps revealed smooth muscle hyperplasia and Ki67 protein (MIB-1) positivity with small intestinal hamartomatous polyps seen macroscopically. Conservative management was initiated for standard postoperative care and intestinal motility. Patient was discharged 9 days postoperatively.
Relevance And Impact:
Based on literature data, modern ideas concerning aetiology, diagnosis, and management of patients with PJS are considered. Attention is focused on the high risk of developing cancer of various localisation in PJS, recommendations are given for cancer screening and clinical observation of patients with hereditary gastrointestinal syndromes in childhood.
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