currarino syndrome- case report university of pecs/hungary, faculty of medicine, department of...
TRANSCRIPT
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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