Importance of Extraintestinal Manifestations in Early Diagnosis of Gardner Syndrome
Joint Authors
Almeida, Jorge
Besteiro, Bruno
Gomes, Filipa
Costa, Cláudia
Portugal, Raquel
Garrido, Isabel
Source
Case Reports in Gastrointestinal Medicine
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-08-05
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
Gardner’s syndrome is an autosomal dominant disease caused by a mutation in the APC gene with 20–30% of cases presenting de novo.
This entity is a variant of familial adenomatous polyposis, with a prevalence of 3/100,000 habitants.
It may present as early as 2 months of age with a variety of both colonic and extracolonic symptoms.
We report a case of a 21-year-old man, without any known family history, presenting with microcytic hypochromic anemia and constitutional symptoms for two months.
Ultimately, after the etiological study, Gardner syndrome diagnosis was established as an index primary familiar case.
Gardner syndrome is a clinical challenge which requires a prompt suspicion in order to reach its diagnosis.
Given the malignant evolution of adenomas in 100% of untreated patients, early identification of extraintestinal manifestations (identifiable prior to colonic symptoms) is of the essence.
A consequent endoscopic study to confirm gastrointestinal involvement is essential for a more favorable prognosis.
American Psychological Association (APA)
Besteiro, Bruno& Gomes, Filipa& Costa, Cláudia& Portugal, Raquel& Garrido, Isabel& Almeida, Jorge. 2020. Importance of Extraintestinal Manifestations in Early Diagnosis of Gardner Syndrome. Case Reports in Gastrointestinal Medicine،Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1147429
Modern Language Association (MLA)
Besteiro, Bruno…[et al.]. Importance of Extraintestinal Manifestations in Early Diagnosis of Gardner Syndrome. Case Reports in Gastrointestinal Medicine No. 2020 (2020), pp.1-4.
https://search.emarefa.net/detail/BIM-1147429
American Medical Association (AMA)
Besteiro, Bruno& Gomes, Filipa& Costa, Cláudia& Portugal, Raquel& Garrido, Isabel& Almeida, Jorge. Importance of Extraintestinal Manifestations in Early Diagnosis of Gardner Syndrome. Case Reports in Gastrointestinal Medicine. 2020. Vol. 2020, no. 2020, pp.1-4.
https://search.emarefa.net/detail/BIM-1147429
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1147429