Rare cases of Peutz-Jeghers syndrome in children

Peutz-Jeghers syndrome is a genetic disease in which hamartomatous polyps of the gastrointestinal tract are detected, which leads to an elevated risk of developing colon cancer and other organs. Aim: to determine the possibility of early diagnosis of Peutz-Jeghers syndrome in children. The authors of the article present their clinical observations of patients with Peutz-Jeghers syndrome who were treated at Odesa Regional Children’s Clinical Hospital. Retrospectively, over the past 20 years, according to the data of the Odesa Regional Children’s Clinical Hospital, 2 patients with Peutz-Jeghers syndrome who were admitted to the hospital with acute abdominal syndrome were observed. The first case was a 5-year-old boy, who operated for the first time on ileoileal intussusception, resection of the small intestine with an end-to-end anastomosis. The second case was a 15-year-old girl, who operated on ileoileal intussusception, intestinal necrosis, peritonitis, and omentitis. Peitz-Jeghers syndrome was diagnosed after the first interventions. Conclusions. Multiple polyps of the digestive tract are one of the causes of iron-deficiency anemia resistant to treatment with iron preparations, which requires the exclusion of Peutz-Jeghers syndrome. Abdominal pain syndrome in children requires a thorough family history, determination of phenotypic signs, and the appointment of a full clinical and instrumental examination. The suspicion of primary care physicians to the detection of phenotypic visual sign is a way to early diagnosis of possible Peutz-Jeghers syndrome; when detecting polyps of the digestive tract in a child during an endoscopic examination with histological examination of the removed polyp and the presence of phenotypic extraintestinal signs of Peutz-Jeghers syndrome. The research was carried out in accordance with the principles of the Declaration of Helsinki. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the author.

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Publication Details

Journal
Modern pediatrics Ukraine
Published
2024-12-28
DOI
https://doi.org/10.15574/sp.2024.8(144).123128
Primary Topic
Genetic factors in colorectal cancer
Type
article
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article

Rare cases of Peutz-Jeghers syndrome in children

M. H. Melnychenko, V. O. Sytnikova, L. B. Eliy, N.A. Dybchynska
Modern pediatrics Ukraine
Genetic factors in colorectal cancer
article

Rare cases of Peutz-Jeghers syndrome in children

M. H. Melnychenko, V. O. Sytnikova, L. B. Eliy, N.A. Dybchynska
article en

Abstract

Peutz-Jeghers syndrome is a genetic disease in which hamartomatous polyps of the gastrointestinal tract are detected, which leads to an elevated risk of developing colon cancer and other organs. Aim: to determine the possibility of early diagnosis of Peutz-Jeghers syndrome in children. The authors of the article present their clinical observations of patients with Peutz-Jeghers syndrome who were treated at Odesa Regional Children’s Clinical Hospital. Retrospectively, over the past 20 years, according to the data of the Odesa Regional Children’s Clinical Hospital, 2 patients with Peutz-Jeghers syndrome who were admitted to the hospital with acute abdominal syndrome were observed. The first case was a 5-year-old boy, who operated for the first time on ileoileal intussusception, resection of the small intestine with an end-to-end anastomosis. The second case was a 15-year-old girl, who operated on ileoileal intussusception, intestinal necrosis, peritonitis, and omentitis. Peitz-Jeghers syndrome was diagnosed after the first interventions. Conclusions. Multiple polyps of the digestive tract are one of the causes of iron-deficiency anemia resistant to treatment with iron preparations, which requires the exclusion of Peutz-Jeghers syndrome. Abdominal pain syndrome in children requires a thorough family history, determination of phenotypic signs, and the appointment of a full clinical and instrumental examination. The suspicion of primary care physicians to the detection of phenotypic visual sign is a way to early diagnosis of possible Peutz-Jeghers syndrome; when detecting polyps of the digestive tract in a child during an endoscopic examination with histological examination of the removed polyp and the presence of phenotypic extraintestinal signs of Peutz-Jeghers syndrome. The research was carried out in accordance with the principles of the Declaration of Helsinki. The informed consent of the patient was obtained for conducting the studies. No conflict of interests was declared by the author.

Modern pediatrics Ukraine(8(144))
Openalex Percentile: Top 59%
Genetic factors in colorectal cancer
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Rare cases of Peutz-Jeghers syndrome in children — M. H. Melnychenko, V. O. Sytnikova, et al. · Modern pediatrics Ukraine (2024) | TGRS Research Map | TGRS