Currarino Syndrome- Case Report

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Currarino Syndrome- Case Report
Attila M Vastyan, Andrew B Pinter, Zsolt
Oberritter, Zsolt Juhasz, Peter Vajda

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

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1981- G.Currarino - Currarino triad

• hemisacrum
• anorectal malformation
• presacral mass

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hemisacrum

• caudal regression syndrome

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Anorectal malformation

• rectourethral fistula
• rectovestibular fistula
• rectocloacal fistula
• rectoperineal fistula (anorectal stenosis)

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Presacral mass

• anterior meningocele
• teratoma
• dermoid cyst
• rectal duplication
• other

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Associated anomalies

• neural tube defects (tethered cord)
• cardiac anomalies
• urologic involvement
• gynecologic malformations
• Hirschsprung, dysganglionosis
• Currarino syndrome

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Genetics

• autosomal dominant inheritance
• mutations or deletions in the coding sequence of
  HLXB9 gene
• phenotype variability

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Case report 1

• D.B (03/10/2001),girl
• constipation since birth, biopsy - no
  Hirschsprung, but anal stenosis
• Y-V plasty for anal stenosis at 9 months, no
  significant improvement
• laxatives, suppositories and enemas

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Case report 2

• bronchoscopy (2003)- stenosis left side
• change in walking ("limping")- 2004
• orthopedic neurologic examination,
• x-ray, CT,MR

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Case report 3

• cardiology- no abnormality detected
• MCU - "lazy bladder", no VUR
• AFP, beta HCG -norm.
• anal and uromanometry
• rectal digital examination
• Operation

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