Disappearing Inferior Vena Cava in A Pediatric Patient with Down Syndrome and Hereditary Thrombophilia

Absence of the infrarenal segment of the inferior vena cava is an extremely rare anomaly. The reasons for such a developmental failure are unclear. Most researchers believe that the cause lies in embryonic dysgenesis affecting separate segments or the entire inferior vena cava. Others suggest that a...

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Main Authors: Bulent Petik, Muhammer Ozgur Cevik, Mehmet Sirik, Deniz Colak, Sukru Mehmet Erturk
Format: Article
Language:English
Published: Ubiquity Press 2016-02-01
Series:Journal of the Belgian Society of Radiology
Subjects:
Online Access:https://www.jbsr.be/articles/975
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author Bulent Petik
Muhammer Ozgur Cevik
Mehmet Sirik
Deniz Colak
Sukru Mehmet Erturk
author_facet Bulent Petik
Muhammer Ozgur Cevik
Mehmet Sirik
Deniz Colak
Sukru Mehmet Erturk
author_sort Bulent Petik
collection DOAJ
description Absence of the infrarenal segment of the inferior vena cava is an extremely rare anomaly. The reasons for such a developmental failure are unclear. Most researchers believe that the cause lies in embryonic dysgenesis affecting separate segments or the entire inferior vena cava. Others suggest that absence of the inferior vena cava is not embryonic in origin, rather the result of intrauterine or perinatal thrombosis. We report a case here that during a period of six months, inferior vena cava first occluded, then become redundant in a baby girl with several chromosomal and gene defects, including Down syndrome and hereditary thrombophilia, admitted to our hospital due to the swelling and redness of the right lower extremity. From this observation, we propose that the absence of the inferior vena cave was not of embryonic origin but due to thrombosis.
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spelling doaj.art-8b1e8ccea115440a9bf15280caf2368f2022-12-21T18:49:50ZengUbiquity PressJournal of the Belgian Society of Radiology2514-82812016-02-01100110.5334/jbr-btr.975894Disappearing Inferior Vena Cava in A Pediatric Patient with Down Syndrome and Hereditary ThrombophiliaBulent Petik0Muhammer Ozgur Cevik1Mehmet Sirik2Deniz Colak3Sukru Mehmet Erturk4Adiyaman University Medical FacultyAdiyaman University Medical FacultyAdiyaman University Medical FacultyAdiyaman University Medical FacultyAdiyaman University Medical FacultyAbsence of the infrarenal segment of the inferior vena cava is an extremely rare anomaly. The reasons for such a developmental failure are unclear. Most researchers believe that the cause lies in embryonic dysgenesis affecting separate segments or the entire inferior vena cava. Others suggest that absence of the inferior vena cava is not embryonic in origin, rather the result of intrauterine or perinatal thrombosis. We report a case here that during a period of six months, inferior vena cava first occluded, then become redundant in a baby girl with several chromosomal and gene defects, including Down syndrome and hereditary thrombophilia, admitted to our hospital due to the swelling and redness of the right lower extremity. From this observation, we propose that the absence of the inferior vena cave was not of embryonic origin but due to thrombosis.https://www.jbsr.be/articles/975Disappearing Inferior Vena CavaHereditary ThrombophiliaIVCDown syndromehomozygous MTHFR polymorphism
spellingShingle Bulent Petik
Muhammer Ozgur Cevik
Mehmet Sirik
Deniz Colak
Sukru Mehmet Erturk
Disappearing Inferior Vena Cava in A Pediatric Patient with Down Syndrome and Hereditary Thrombophilia
Journal of the Belgian Society of Radiology
Disappearing Inferior Vena Cava
Hereditary Thrombophilia
IVC
Down syndrome
homozygous MTHFR polymorphism
title Disappearing Inferior Vena Cava in A Pediatric Patient with Down Syndrome and Hereditary Thrombophilia
title_full Disappearing Inferior Vena Cava in A Pediatric Patient with Down Syndrome and Hereditary Thrombophilia
title_fullStr Disappearing Inferior Vena Cava in A Pediatric Patient with Down Syndrome and Hereditary Thrombophilia
title_full_unstemmed Disappearing Inferior Vena Cava in A Pediatric Patient with Down Syndrome and Hereditary Thrombophilia
title_short Disappearing Inferior Vena Cava in A Pediatric Patient with Down Syndrome and Hereditary Thrombophilia
title_sort disappearing inferior vena cava in a pediatric patient with down syndrome and hereditary thrombophilia
topic Disappearing Inferior Vena Cava
Hereditary Thrombophilia
IVC
Down syndrome
homozygous MTHFR polymorphism
url https://www.jbsr.be/articles/975
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