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Congenital intestinal hypoganglionosis: A radiologic mimic of Hirschsprung's disease

Intestinal hypoganglionosis or isolated hypoganglionosis is a rare entity with a clinical and radiologic presentation that can mimic Hirschsprung's disease in the neonatal period. The diagnosis of this entity can be challenging with suction rectal biopsies that are standard for diagnosing Hirsc...

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Autores principales: Sreedher, Gayathri, Garrison, Aaron, Novak, Robert, Keisling, Matthew, Ganapathy, Shankar Srinivas
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6222261/
https://www.ncbi.nlm.nih.gov/pubmed/30416639
http://dx.doi.org/10.1016/j.radcr.2018.10.007
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author Sreedher, Gayathri
Garrison, Aaron
Novak, Robert
Keisling, Matthew
Ganapathy, Shankar Srinivas
author_facet Sreedher, Gayathri
Garrison, Aaron
Novak, Robert
Keisling, Matthew
Ganapathy, Shankar Srinivas
author_sort Sreedher, Gayathri
collection PubMed
description Intestinal hypoganglionosis or isolated hypoganglionosis is a rare entity with a clinical and radiologic presentation that can mimic Hirschsprung's disease in the neonatal period. The diagnosis of this entity can be challenging with suction rectal biopsies that are standard for diagnosing Hirschsprung's disease. We present this case of congenital intestinal hypoganglionosis detailing the neonatal course, due to its rarity and the conundrums faced before an eventual diagnosis could be rendered. This case also illustrates the role of full thickness rectal biopsy in selected cases such as ours where the radiologic features are typical of Hirschsprung's, despite negative suction biopsies.
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spelling pubmed-62222612018-11-09 Congenital intestinal hypoganglionosis: A radiologic mimic of Hirschsprung's disease Sreedher, Gayathri Garrison, Aaron Novak, Robert Keisling, Matthew Ganapathy, Shankar Srinivas Radiol Case Rep Pediatric Intestinal hypoganglionosis or isolated hypoganglionosis is a rare entity with a clinical and radiologic presentation that can mimic Hirschsprung's disease in the neonatal period. The diagnosis of this entity can be challenging with suction rectal biopsies that are standard for diagnosing Hirschsprung's disease. We present this case of congenital intestinal hypoganglionosis detailing the neonatal course, due to its rarity and the conundrums faced before an eventual diagnosis could be rendered. This case also illustrates the role of full thickness rectal biopsy in selected cases such as ours where the radiologic features are typical of Hirschsprung's, despite negative suction biopsies. Elsevier 2018-11-03 /pmc/articles/PMC6222261/ /pubmed/30416639 http://dx.doi.org/10.1016/j.radcr.2018.10.007 Text en © 2018 The Authors http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Pediatric
Sreedher, Gayathri
Garrison, Aaron
Novak, Robert
Keisling, Matthew
Ganapathy, Shankar Srinivas
Congenital intestinal hypoganglionosis: A radiologic mimic of Hirschsprung's disease
title Congenital intestinal hypoganglionosis: A radiologic mimic of Hirschsprung's disease
title_full Congenital intestinal hypoganglionosis: A radiologic mimic of Hirschsprung's disease
title_fullStr Congenital intestinal hypoganglionosis: A radiologic mimic of Hirschsprung's disease
title_full_unstemmed Congenital intestinal hypoganglionosis: A radiologic mimic of Hirschsprung's disease
title_short Congenital intestinal hypoganglionosis: A radiologic mimic of Hirschsprung's disease
title_sort congenital intestinal hypoganglionosis: a radiologic mimic of hirschsprung's disease
topic Pediatric
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6222261/
https://www.ncbi.nlm.nih.gov/pubmed/30416639
http://dx.doi.org/10.1016/j.radcr.2018.10.007
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