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Currarino's syndrome misinterpreted as Hirschsprung's disease for 17 years: a case report

BACKGROUND: Currarino's syndrome is an autosomal dominant hereditary disease known by the triad of anorectal stenosis, anterior sacral defect, and a presacral mass that is most often an anterior sacral meningocele. Actually this syndrome could remain asymptomatic in many instances, but symptoma...

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Autores principales: Saberi, Hooshang, Habibi, Zohreh, Adhami, Amin
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2642783/
https://www.ncbi.nlm.nih.gov/pubmed/19192271
http://dx.doi.org/10.1186/1757-1626-2-118
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author Saberi, Hooshang
Habibi, Zohreh
Adhami, Amin
author_facet Saberi, Hooshang
Habibi, Zohreh
Adhami, Amin
author_sort Saberi, Hooshang
collection PubMed
description BACKGROUND: Currarino's syndrome is an autosomal dominant hereditary disease known by the triad of anorectal stenosis, anterior sacral defect, and a presacral mass that is most often an anterior sacral meningocele. Actually this syndrome could remain asymptomatic in many instances, but symptomatic patients might present with constipation as the sole manifestation of the Currarino's syndrome among the other wide spectrum of manifestations. CASE PRESENTATION: An 18-year old woman was diagnosed with a late-recognized Currarino syndrome, presented by a longstanding constipation which had been wrongly diagnosed and treated as Hirschsprung's disease since early childhood. CONCLUSION: Long-lasting constipation could imply to neural tube anomaly such as anterior sacral meningocele with or without association to Currarino's syndrome.
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spelling pubmed-26427832009-02-14 Currarino's syndrome misinterpreted as Hirschsprung's disease for 17 years: a case report Saberi, Hooshang Habibi, Zohreh Adhami, Amin Cases J Case Report BACKGROUND: Currarino's syndrome is an autosomal dominant hereditary disease known by the triad of anorectal stenosis, anterior sacral defect, and a presacral mass that is most often an anterior sacral meningocele. Actually this syndrome could remain asymptomatic in many instances, but symptomatic patients might present with constipation as the sole manifestation of the Currarino's syndrome among the other wide spectrum of manifestations. CASE PRESENTATION: An 18-year old woman was diagnosed with a late-recognized Currarino syndrome, presented by a longstanding constipation which had been wrongly diagnosed and treated as Hirschsprung's disease since early childhood. CONCLUSION: Long-lasting constipation could imply to neural tube anomaly such as anterior sacral meningocele with or without association to Currarino's syndrome. BioMed Central 2009-02-03 /pmc/articles/PMC2642783/ /pubmed/19192271 http://dx.doi.org/10.1186/1757-1626-2-118 Text en Copyright ©2009 Saberi et al; licensee BioMed Central Ltd. http://creativecommons.org/licenses/by/2.0 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Saberi, Hooshang
Habibi, Zohreh
Adhami, Amin
Currarino's syndrome misinterpreted as Hirschsprung's disease for 17 years: a case report
title Currarino's syndrome misinterpreted as Hirschsprung's disease for 17 years: a case report
title_full Currarino's syndrome misinterpreted as Hirschsprung's disease for 17 years: a case report
title_fullStr Currarino's syndrome misinterpreted as Hirschsprung's disease for 17 years: a case report
title_full_unstemmed Currarino's syndrome misinterpreted as Hirschsprung's disease for 17 years: a case report
title_short Currarino's syndrome misinterpreted as Hirschsprung's disease for 17 years: a case report
title_sort currarino's syndrome misinterpreted as hirschsprung's disease for 17 years: a case report
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2642783/
https://www.ncbi.nlm.nih.gov/pubmed/19192271
http://dx.doi.org/10.1186/1757-1626-2-118
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