currarino syndrome- case report

Currarino Syndrome- Case Report

University of Pecs/Hungary, Faculty of Medicine, Department of Paediatrics, Surgical Unit

Attila M Vastyan, Andrew B Pinter, Zsolt Oberritter, Zsolt Juhasz, Peter Vajda

1981- G.Currarino - Currarino triad

hemisacrumanorectal malformationpresacral mass

hemisacrumcaudal regression syndrome

Anorectal malformationrectourethral fistularectovestibular fistularectocloacal fistularectoperineal fistula (anorectal stenosis)

Presacral massanterior meningoceleteratomadermoid cystrectal duplicationother

Associated anomaliesneural tube defects (tethered cord)cardiac anomaliesurologic involvementgynecologic malformationsHirschsprung, dysganglionosis

Currarino syndrome

Geneticsautosomal dominant inheritancemutations or deletions in the coding sequence of HLXB9 genephenotype variability

Case report 1D.B (03/10/2001),girlconstipation since birth, biopsy - no Hirschsprung, but anal stenosis Y-V plasty for anal stenosis at 9 months, no significant improvementlaxatives, suppositories and enemas

Case report 2bronchoscopy (2003)- stenosis left sidechange in walking ("limping")- 2004orthopedic & neurologic examination, x-ray, CT,MR

Case report 3cardiology- no abnormality detected MCU - "lazy bladder", no VURAFP, beta HCG -norm.anal and uromanometryrectal digital examinationOperation

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