Gardner syndrome in childhood: A case report

Authors

  • Juan Mario Reyes Vera Hospital Pediátrico Universitario "José Luis Miranda" http://orcid.org/0000-0001-8349-3346
  • Beatriz González González Universidad de Ciencias Médicas de Villa Clara
  • Manuel Alejandro Hernández Pérez Universidad de Ciencias Médicas de Villa Clara

Keywords:

síndrome de Gardner, poliposis adenomatosa del colon, osteoma

Abstract

Introduction: Gardner syndrome is a phenotypic variant of familial adenomatous polyposis that consists of a typical triad: multiple craniofacial osteomas, cutaneous tumors and intestinal polyposis. Case report: the case of a 15-year-old female patient is reported.  She underwent an early investigation of familial adenomatous polyposis. The physical examination showed two tumor-like lesions: the first in the right mandibular arch and the second in the anterior side of the right tibia. A colonoscopy was conducted and several polyps were sent for histological study, which concluded they were tubular adenomatous polyps. The final diagnosis of Gardner syndrome was reached, a rare disease in pediatric patients, which is diagnosed in adults after 30 years of age, but with well established colon neoplasia. Conclusions: a rapid diagnosis and rapid intervention can improve the quality of life and even avoid the appearance of very aggressive neoplasms in the digestive tract, which is the natural history in this genetic disease.

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Author Biographies

Juan Mario Reyes Vera, Hospital Pediátrico Universitario "José Luis Miranda"

Especialista de I Grado en Medicina General Integral. Especialista de II Grado en Gastroenterología. Máster en Atención Integral al Niño. Profesor Auxiliar de la Universidad de Ciencias Médicas de Villa Clara. Investigador agregado.

Beatriz González González, Universidad de Ciencias Médicas de Villa Clara

Estudiantes de Medicina

Manuel Alejandro Hernández Pérez, Universidad de Ciencias Médicas de Villa Clara

Estudiante de Medicina

References

1. Adisen MZ, Okkesim A, Misirlioglu M. The importance of early diagnosis of gardner's syndrome in dental examination. Niger J Clin Pract [Internet]. 2018 Jan [citado 20 Mar 2018];21(1):114-116. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/29411735

2. Yu F, Cai W, Jiang B, Xu L, Liu S, Zhao S. A novel mutation of adenomatous polyposis coli (APC) gene results in the formation of supernumerary teeth. J Cell Mol Med [Internet]. 2018 Jan [citado 20 Mar 2018];22(1):152-162. Disponible en: https://onlinelibrary.wiley.com/doi/full/10.1111/jcmm.13303

3. Lorca V, Rueda D, Martín-Morales L, Poves C, Fernández Aceñero MJ, Ruiz-Ponte C, et al. Role of GALNT12 in the genetic predisposition to attenuated adenomatous polyposis syndrome. PLoS One [Internet]. 2017 Nov [citado 20 Mar 2018];12(11):e0187312. Disponible en: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0187312

4. Koh KJ, Park HN, Kim KA. Gardner syndrome associated with multiple osteomas, intestinal polyposis, and epidermoid cysts. Imaging Sci Dent [Internet]. 2016 Dec [citado 20 Mar 2018];46(4):267-272. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5192025/

5. Casper M, Petek E, Henn W, Niewald M, Schneider G, Zimmer V, et al. Multidisciplinary treatment of desmoid tumours in Gardner's syndrome due to a large interstitial deletion of chromosome 5q. QJM [Internet]. 2014 Jul [citado 20 Mar 2018];107(7):521-7. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/24554300

6. Pinheiro LV, Fagundes JJ, Rodrigues Coy CS, Cabello C, Toro I, Michellino M, et al. Multiple desmoid tumors in a patient with Gardner's syndrome - Report of a case. Int J Surg Case Rep [Internet]. 2014 [citado 20 Mar 2018];5(7):370-374. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4064399/

7. Cristofaro MG, Giudice A, Amantea M, Riccelli U, Giudice M. Gardner's syndrome: a clinical and genetic study of a family. Oral Surg Oral Med Oral Pathol Oral Radiol [Internet]. 2013 Mar [citado 20 Mar 2018];115(3):e1-6. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/23453033

8. Zhang L, Theodoropoulos PC, Eskiocak U, Wang W, Moon YA, Posner B, et al. Selective targeting of mutant adenomatous polyposis coli (APC) in colorectal cancer. Sci Transl Med [Internet]. 2016 Oct [citado 20 Mar 2018];8(361):361ra140. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/27798265

9. Agrawal D, Newaskar V, Shrivastava, Anand Nayak P. External manifestations of Gardner's syndrome as the presenting clinical entity. BMJ Case Rep [Internet]. 2014 Aug [citado 20 Mar 2018];2014:bcr2013200293. Disponible en: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4139567/

10. Henneton P, Frank M, Litvinova E, et al. Gardner-Diamond syndrome in a young man: A case report and literature review. Rev Med Interne [Internet].2017 Sep [citado 20 Mar 2018];38(9):623-627. Disponible en: https://www.ncbi.nlm.nih.gov/pubmed/28363337

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Published

2019-05-27

How to Cite

1.
Reyes Vera JM, González González B, Hernández Pérez MA. Gardner syndrome in childhood: A case report. Acta Méd Centro [Internet]. 2019 May 27 [cited 2025 Jul. 1];13(3):417-21. Available from: https://revactamedicacentro.sld.cu/index.php/amc/article/view/1029

Issue

Vol. 13 No. 3 (2019): July-September

Section

Case Reports

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