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Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
Currarino's syndrome misinterpreted as Hirschsprung's disease for 17 years: a case report
Hooshang Saberi1, Zohreh Habibi, Amin Adhami
1Department of Neurosurgery, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran. zohreh_h56@yahoo.com.
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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