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[Peutz-Jeghers syndrome manifested as massive melæna at CHU-JRA Madagascar hospital: a case report]
Andrianimaro Florelia Martinetti1, Rasoanaivo Mamy Andriantsoa2, Rajaonera Tovohery Andriambelo2
1Service Bloc opératoire-réanimation, CHRD Moramanga, Madagascar.
Insights
Peutz-Jeghers syndrome (PJS) is a rare cancer predisposition syndrome causing intestinal polyps and mucocutaneous lentigines. Early diagnosis and endoscopic management are crucial for preventing severe complications like gastrointestinal bleeding.
Area of Science:
- Gastroenterology
- Genetics
- Oncology
Background:
- Peutz-Jeghers syndrome (PJS) is an inherited disorder characterized by hamartomatous polyps in the gastrointestinal tract and mucocutaneous lentigines.
- It is associated with an increased risk of various cancers, necessitating early diagnosis and management.
- Patients often present with complications such as bleeding, intussusception, and bowel obstruction.
Observation:
- A 32-year-old male presented with massive gastrointestinal bleeding (melaena) and hypovolemic shock, requiring surgical intervention.
- Hamartomatous polyps in the small intestine were identified as the source of bleeding.
- Diagnosis of PJS was confirmed by childhood labial lentigines; no malignancy was detected at presentation.
Findings:
- The case highlights diagnostic challenges and complications of PJS, particularly severe gastrointestinal bleeding.
- Endoscopic polypectomy via double-balloon enteroscopy offers a less invasive alternative to emergency surgery for bleeding polyps.
- PJS remains underdiagnosed in regions like Madagascar, underscoring the need for increased awareness.
Implications:
- Increased clinical awareness of PJS is vital for timely diagnosis and management, especially in cases of unexplained gastrointestinal bleeding.
- Minimally invasive endoscopic techniques can effectively manage PJS-related complications, improving patient outcomes.
- Further research and education are needed to improve understanding and care for PJS patients globally.
Abstract:
Peutz-Jeghers syndrome (SPJ) is characterized by intestinal hamartomatous polyps in association with mucocutaneous lentiginosis. Patients are exposed to mechanical and bleeding complications. It is a cancer predisposition syndrome. Our study highlights the diagnostic criteria for Peutz-Jeghers syndrome (SPJ), the complications and the therapeutic progresses in patient care. We report the case of a 32-year-old male presenting with a massive melaena. It was hospitalized in the surgical intensive care unit with hypovolemic shock difficult to control. This required surgical intervention to stop bleeding. We found a hamartomatous polyps in the small intestine which caused bleeding. Peutz Jeghers Syndrome was diagnosed on the basis of labial lentigines during childhood. Clinical and paraclinical explorations did not reveal the presence of cancer. In Madagascar, this disease is still poorly understood. In the literature, the diagnosis of Peutz Jeghers syndrome is based on clinical findings or on the presence of complications such as haemorrhage, invagination or bowel obstruction. In our case, the disease was complicated by gastrointestinal bleeding with hypovolemic shock. Endoscopic polypectomy using double-balloon enteroscopy can reduce emergency small bowel surgery. Peutz-Jeghers syndrome is a rare disease. Despite this, it is important for clinicians to know it and to take it into consideration in case of gastrointestinal bleeding.
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