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ISSN: 0031-3939
Pediatria Polska - Polish Journal of Paediatrics
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1/2021
vol. 96
 
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Opis przypadku

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
Data publikacji online: 2021/03/28
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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.