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

hemisacrum

anorectal malformation

presacral mass

hemisacrum

caudal regression syndrome

Anorectal malformation

rectourethral fistula

rectovestibular fistula

rectocloacal fistula

rectoperineal fistula (anorectal stenosis)

Presacral mass

anterior meningocele

teratoma

dermoid cyst

rectal duplication

other

Associated anomalies

neural tube defects (tethered cord)

cardiac anomalies

urologic involvement

gynecologic malformations

Hirschsprung, dysganglionosis

Currarino syndrome

Genetics

autosomal dominant inheritance

mutations or deletions in the coding sequence of HLXB9 gene

phenotype variability

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

Case report 2

bronchoscopy (2003)- stenosis left side

change in walking ("limping")- 2004

orthopedic & neurologic examination,

x-ray, CT,MR

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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