Modern Pediatrics. Ukraine. (2024). 8(144): 123-128. doi: 10.15574/SP.2024.8(144).123128
Melnychenko M. G.¹, Sytnikova V. O.¹, Dybchynska N. A.², Eliy L. B.^1
1Odesa National Medical University, Ukraine
²Odessa Regional Children`s Clinical Hospital, Ukraine

For citation: Melnychenko MG, Sytnikova VO, Dybchynska NA, Eliy LB. (2024). Rare cases of Peutz-Jeghers syndrome in children. Modern Pediatrics. Ukraine. 8(144): 123-128. doi: 10.15574/SP.2024.8(144).123128.
Article received: Sep 12, 2024. Accepted for publication: Dec 10, 2024.

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.
Keywords: cases, Peutz-Jeghers syndrome, children.

REFERENCES

1. 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

2. 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

3. 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

4. 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

5. 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

6. 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

7. 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.

8. 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

9. 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

10. 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

11. 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.

12. 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

13. 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

14. 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

15. 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