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Published on: May 26, 2021
A Peutz-Jeghers syndrome case with iron deficiency anemia and jejuno-jejunal invagination
Haci Mehmet Sökmen1, Ali Tüzün Ince, Cengiz Bölükbaş
1Gastroenterology Clinic, Haydarpasa Numune Education and Training Hospital, Istanbul, Turkey. alince@superonline.com
Insights
Peutz-Jeghers syndrome, a rare genetic disorder, causes characteristic pigmentations and precancerous polyps. Early investigation of anemia and ileus is crucial for diagnosing this syndrome.
Area of Science:
- Gastroenterology
- Genetics
- Dermatology
Background:
- Peutz-Jeghers syndrome (PJS) is an autosomal dominant disorder.
- It is characterized by mucocutaneous pigmentations and hamartomatous polyps in the gastrointestinal tract and other organs.
- PJS is recognized as a precancerous condition, increasing cancer risk.
Observation:
- A case report of a young patient presenting with gastrointestinal bleeding.
- Endoscopic findings revealed multiple polyps in the stomach, jejunum, rectum, and terminal ileum.
- The patient also exhibited mucocutaneous pigmentations on the lips, buccal mucosa, and nails.
Findings:
- Jejunal polyps were identified as the cause of jejuno-jejunal intussusception and iron deficiency anemia.
- Histopathological analysis confirmed hamartomatous polyps consistent with Peutz-Jeghers syndrome.
- Dermatological consultation supported the diagnosis based on characteristic pigmentations.
Implications:
- Highlights the importance of considering PJS in patients with unexplained anemia and ileus.
- Emphasizes the diagnostic value of combined gastrointestinal and dermatological assessments.
- Underscores the precancerous nature of PJS, necessitating vigilant monitoring and management.
Abstract:
Peutz-Jeghers syndrome is an autosomal dominantly inherited rare syndrome characterized by mucocutaneous pigmentations, with intestinal and extraintestinal polyps. It is accepted to be a precancerous syndrome. The polyps can cause anemia and intestinal obstruction and intussuception. We present a young patient admitted to our clinic with a history of recent gastrointestinal bleeding. Upper and lower gastrointestinal endoscopic examinations revealed multiple polyps located in the stomach, jejunum, rectum and terminal ileum. In addition, there were many mucocutaneous pigmentations on the lips, buccal mucosa and finger and toe nails. Jejunal polyps were found to be the cause of jejuno-jejunal invagination and iron deficiency anemia. Histopathological evaluation of the polyps revealed hamartomatous polyps of Peutz-Jeghers syndrome and this diagnosis was supported by a dermatology specialist. It is suggested that any patient presenting with ileus attacks and findings of anemia should be investigated for polyps and mucocutaneous pigmentations of the precancerous Peutz-Jeghers syndrome.
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