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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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Detalles Bibliográficos
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
Descripción
Sumario: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.