Currarino syndrome: proposal of a diagnostic and therapeutic protocol

J Pediatr Surg. 2004 Sep;39(9):1305-11. doi: 10.1016/j.jpedsurg.2004.05.003.


Background/purpose: The Currarino syndrome (CS) is a peculiar form of caudal regression syndrome (CRS) characterized by the association of hemisacrum, anorectal malformation (ARM), and presacral mass. The authors analyzed retrospectively their series, and they propose a multidisciplinary diagnostic and therapuetic protocol that until now has not been introduced.

Methods: A series of 6 patients with CS is presented. Five of them were treated initially in other centers. None of them had an early diagnosis. All presented associated anomalies; in 50%, Hirschsprung's disease (HD) and other dysganglionoses were present. One patient died of a presacral ectopic nephroblastoma.

Results: Depending on the expressivity, 3 types of CS can be identified, complete, mild, and minimal. Dysganglionoses and HD can be considered part of CS. A multidisciplinary diagnostic and therapeutic protocol is presented. Main points are sacrum x-Ray, molecular genetic diagnosis, radiologic evaluation of every member of CS families, magnetic resonance (MR) evaluation of patient spine and pelvis, suction rectal biopsies, and search for associated anomalies.

Conclusions: This protocol could give a valid contribution to the treatment of CS, allowing an early diagnosis and proposing a rational timing of multidisciplinary surgical procedures. Early diagnosis and treatment are essential to avoid morbidity and mortality from an undiagnosed presacral mass.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / surgery*
  • Anal Canal / abnormalities*
  • Chromosomes, Human, Pair 7 / genetics
  • Coccyx / abnormalities
  • Colostomy
  • Constipation / etiology
  • Early Diagnosis
  • Fatal Outcome
  • Female
  • Genes, Dominant
  • Hirschsprung Disease / complications
  • Homeodomain Proteins / genetics
  • Humans
  • Infant, Newborn
  • Lipoma / genetics
  • Lumbar Vertebrae / abnormalities
  • Male
  • Meningocele / complications
  • Meningocele / diagnosis*
  • Meningocele / surgery*
  • Neural Tube Defects / etiology
  • Pelvic Neoplasms / genetics
  • Phenotype
  • Rectal Fistula / congenital
  • Rectum / abnormalities*
  • Retrospective Studies
  • Sacrum / abnormalities*
  • Syndrome
  • Teratoma / genetics
  • Transcription Factors / genetics
  • Vagina / abnormalities
  • Wilms Tumor / complications
  • Wilms Tumor / genetics


  • Homeodomain Proteins
  • MNX1 protein, human
  • Transcription Factors