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; Andrzej Pławski; Magdalena Badura-Stronka; Mikołaj Teisseyre; Maciej Dądalski; Joanna Cielecka-Kuszyk; Joanna Pawłowska

doi:10.5114/polp.2021.104832

eISSN: 2300-8660
ISSN: 0031-3939

Pediatria Polska - Polish Journal of Paediatrics

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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

Department of Gastroenterology, Hepatology, Nutritional Disorders and Pediatrics, Children’s Memorial Health Institute in Warsaw, Poland
Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland
Department of General, Endocrine Surgery and Gastroenterological Oncology, Poznan University of Medical Science, Poland
Department of Medical Genetics, Poznan University of Medical Sciences, Poland
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

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AMA

Kaps-Kopiec D, Pławski A, Badura-Stronka M, et al. 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. Pediatria Polska - Polish Journal of Paediatrics. 2021;96(1):71-76. doi:10.5114/polp.2021.104832.

APA

Kaps-Kopiec, D., Pławski, A., Badura-Stronka, M., Teisseyre, M., Dądalski, M.,  & Cielecka-Kuszyk, J. et al. (2021). 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. Pediatria Polska - Polish Journal of Paediatrics, 96(1), 71-76. https://doi.org/10.5114/polp.2021.104832

Chicago

Kaps-Kopiec, Dominika, Andrzej Pławski, Magdalena Badura-Stronka, Mikołaj Teisseyre, Maciej Dądalski, Joanna Cielecka-Kuszyk,  and Joanna Pawłowska. 2021. "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". Pediatria Polska - Polish Journal of Paediatrics 96 (1): 71-76. doi:10.5114/polp.2021.104832.

Harvard

Kaps-Kopiec, D., Pławski, A., Badura-Stronka, M., Teisseyre, M., Dądalski, M., Cielecka-Kuszyk, J.,  and Pawłowska, J. (2021). 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. Pediatria Polska - Polish Journal of Paediatrics, 96(1), pp.71-76. https://doi.org/10.5114/polp.2021.104832

MLA

Kaps-Kopiec, Dominika et al. "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." Pediatria Polska - Polish Journal of Paediatrics, vol. 96, no. 1, 2021, pp. 71-76. doi:10.5114/polp.2021.104832.

Vancouver

Kaps-Kopiec D, Pławski A, Badura-Stronka M, Teisseyre M, Dądalski M, Cielecka-Kuszyk J et al. 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. Pediatria Polska - Polish Journal of Paediatrics. 2021;96(1):71-76. doi:10.5114/polp.2021.104832.

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:

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

cancer, polyps, telangiectasia, organ arteriovenous malformations

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