Rare cases of Peutz-Jeghers syndrome in children
DOI:
https://doi.org/10.15574/SP.2024.8(144).123128Keywords:
cases, Peutz-Jeghers syndrome, childrenAbstract
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.
References
Amru RL, Dhok A. (2024). Peutz-Jeghers Syndrome: A Comprehensive Review of Genetics, Clinical Features, and Management Approaches. Cureus. 16(4): e58887. https://doi.org/10.7759/cureus.58887; PMid:38800180 PMCid:PMC11116740
Barhmji H, Alsalehi A, Kammasha A, Alkheder A. (2024). Uncommon manifestation of Peutz-Jeghers syndrome: a case of jejuno-jejunal intussusception and volvulus leading to small bowel obstruction. J Surg Case Rep. 2024(5): rjae335. eCollection 2024 May. https://doi.org/10.1093/jscr/rjae335; PMid:38812577 PMCid:PMC11132885
Daniell J, Plazzer JP, Perera A, Macrae F. (2018). An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review. Fam Cancer. 17: 421-427. https://doi.org/10.1007/s10689-017-0037-3; PMid:28900777
Fostira F, Mollaki V, Lypas G, Alexandrakis G, Christianakis E, Tzouvala M et al. (2018). Genetic analysis and clinical description of Greek patients with Peutz-Jeghers syndrome: creation of a National Registry. Cancer Genet. 220: 19-23. https://doi.org/10.1016/j.cancergen.2017.11.004; PMid:29310834
Iwama I, Shimizu H, Nambu R, Okuhira T, Kakuta F, Tachibana N et al. (2019). Efficacy and safety of a capsule endoscope delivery device in children. Eur J Gastroenterol Hepatol. 31(12): 1502-1507. https://doi.org/10.1097/MEG.0000000000001513; PMid:31464784
Jeghers H, McKusick VA, Katz KH. (1949). Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits; a syndrome of diagnostic significance. Clinical Guidelines for Peutz-Jeghers Syndrome. N Engl J Med. 241(26): 1031-1036. https://doi.org/10.1056/NEJM194912292412601; PMid:15398245
Khanabadi B, Najafgholizadeh SD, Rejali L, Taleghani MY, Tavallaei M, Shahrokh S et al. (2023). A novel stop codon mutation in STK11 gene is associated with Peutz-Jeghers Syndrome and elevated cancer risk: a case study. Gastroenterol Hepatol Bed Bench. 16(3): 341-346. doi: 10.22037/ghfbb.v16i2.2751.
Latchford A, Cohen S, Auth M, Scaillon M, Viala J, Daniels R et al. (2019). Management of Peutz-Jeghers syndrome in children and adolescents: a position paper from the ESPGHAN Polyposis Working Group. J Pediatr Gastroenterol Nutr. 68: 442-452. https://doi.org/10.1097/MPG.0000000000002248; PMid:30585892
Matiyash OY, Didukh IM. (2019). Peutz-Jeghers syndrome with clinical manifestations of mixed intestinal obstruction in a child. Klinichna khirurhiia. 86(4): 74-75. https://doi.org/10.26779/2522-1396.2019.04.74
Pennazio M, Rondonotti E, Despott EJ, Dray X, Keuchel M, Moreels T et al. (2023). Small-bowel capsule endoscopy and device-assisted enteroscopy for diagnosis and treatment of small-bowel disorders: European Society of Gastrointestinal Endoscopy (ESGE) Guideline: update 2022. Endoscopy. 55(1): 58-95. https://doi.org/10.1055/a-1973-3796; PMid:36423618
Peutz JLA. (1921). A Very Peculiar Familial Polyposis of the Mucous Membrane of the Digestive Tract and the Nasopharynx Together with Peculiar Pigmentation of the Skin and Mucous Membrane. Nederl Maandschr v Geneesk. 10: 134-146.
Stasinos I, Kamperidis N, Murino A, Jenkins JT, Warusavitarne J, Fraser C et al. (2020). Single incision laparoscopic assisted double balloon enteroscopy: a novel technique to manage small bowel pathology. Surgical Endoscopy. 18: 1-7. https://doi.org/10.1007/s00464-020-07446-2; PMid:32072281
Verma A, Kanneganti P, Kumar B, Upadhyaya VD, Mandelia A, Naik PB et al. (2024). Peutz-Jeghers syndrome: management for recurrent intussusceptions. Pediatr Surg Int. 40(1): 148. https://doi.org/10.1007/s00383-024-05723-y; PMid:38825635
Wagner A, Aretz S, Auranen A, Bruno MJ, Cavestro GM, Crosbie EJ et al. (2021). The management of Peutz-Jeghers syndrome: European hereditary tumor group (EHTG) guideline. J Clin Med. 10(3): 473. https://doi.org/10.3390/jcm10030473; PMid:33513864 PMCid:PMC7865862
Yamamoto H, Sakamoto H, Kumagai H, Abe T, Ishiguro S, Uchida K et al. (2023). Clinical Guidelines for Diagnosis and Management of Peutz-Jeghers Syndrome in Children and Adults. Digestion. 104(5): 335-347. https://doi.org/10.1159/000529799; PMid:37054692
Downloads
Published
Issue
Section
License
Copyright (c) 2024 Modern pediatrics. Ukraine
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
The policy of the Journal “MODERN PEDIATRICS. UKRAINE” is compatible with the vast majority of funders' of open access and self-archiving policies. The journal provides immediate open access route being convinced that everyone – not only scientists - can benefit from research results, and publishes articles exclusively under open access distribution, with a Creative Commons Attribution-Noncommercial 4.0 international license (СС BY-NC).
Authors transfer the copyright to the Journal “MODERN PEDIATRICS. UKRAINE” when the manuscript is accepted for publication. Authors declare that this manuscript has not been published nor is under simultaneous consideration for publication elsewhere. After publication, the articles become freely available on-line to the public.
Readers have the right to use, distribute, and reproduce articles in any medium, provided the articles and the journal are properly cited.
The use of published materials for commercial purposes is strongly prohibited.
