en POLSKI
eISSN: 2300-8660
ISSN: 0031-3939
Pediatria Polska - Polish Journal of Paediatrics
Current issue Archive Manuscripts accepted About the journal Editorial board Abstracting and indexing Contact Instructions for authors Ethical standards and procedures
Editorial System
Submit your Manuscript
SCImago Journal & Country Rank
Search
Editorial Policies
Sarajevo Declaration on Integrity and Visibility of Scholarly Publications

1/2021
vol. 96
 
Share:
Send email
Share:
abstract:
Case report

Juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia caused by the SMAD4 gene mutation in a paediatric patient – a case report and a review of the literature

Dominika Kaps-Kopiec
1
,
Andrzej Pławski
2, 3
,
Magdalena Badura-Stronka
4
,
Mikołaj Teisseyre
1
,
Maciej Dądalski
1
,
Joanna Cielecka-Kuszyk
5
,
Joanna Pawłowska
1

  1. Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, Children’s Memorial Health Institute in Warsaw, Poland
  2. Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
  3. Department of General, Endocrine Surgery and Gastroenterological Oncology, Poznan University of Medical Science, Poland
  4. Department of Medical Genetics, Poznan University of Medical Sciences, Poland
  5. Department of Pathology, Children’s Memorial Health Institute in Warsaw
Pediatr Pol 2021; 96 (1): 71–76
DOI: https://doi.org/10.5114/polp.2021.104832
Online publish date: 2021/03/28
View full text Get citation
 
PlumX metrics:
Germline mutations in the SMAD4 gene cause juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia. In some cases, the coexistence of these 2 syndromes can be observed among probands with the mutation in the SMAD4 gene. A combined syndrome of juvenile polyps of the gastrointestinal tract and hereditary haemorrhagic telangiectasia caused by mutations of the SMAD4 gene is recognized as a distinct disease entity (OMIM #175050). Herein we present a case of a teenage boy with an affected family history, who was admitted to our department in order to broaden the diagnosis of the causes of his rectal bleeding and recurrent nasal bleeding. In the course of investigation polyps in his gastrointestinal tract and arteriovenous malformations in his lungs were revealed.
keywords:

cancer, polyps, telangiectasia, organ arteriovenous malformations