title: New clinical and therapeutic perspectives in Currarino syndrome (study of 29 cases).
abstract: OBJECTIVE
  The aim of the study was to clearly define the anomalies that compose the Currarino syndrome (CS). We highlight the frequency of associated malformations of the spinal cord and the possibility of a communication between the presacral tumor and the spinal canal, leading to neurological complications.
  
  
  METHODS
  We studied 29 patients with CS, including 12 familial cases; histological examination of the presacral tumor was performed, and cytogenetic and molecular biology studies of the HLXB9 locus were carried out.
  
  
  RESULTS
  All except 2 patients had a sacral malformation; 23 had an anorectal anomaly and 8 had isolated chronic intestinal pseudo-obstruction. There were 20 presacral tumors, one of which was malignant. There was a communication between the presacral tumor and the spinal canal in 12 cases, and tethering of the spinal cord in 17 cases. Twenty-five patients underwent surgery with a single-stage operation for 7, on both the intestinal and the presacral malformations, and, when required, the spinal cord anomalies. Twelve patients harbored a heterozygous point mutation of the coding sequence of HLXB9 gene.
  
  
  CONCLUSIONS
  By accurate evaluation of the 4 main features in the CS, the correct surgical management, including neurosurgery, can be performed in a 1-stage approach.
authors.affiliation: Department of Pediatric Surgery, Hôpital Necker-Enfants Malades, 75015 Paris cedex 15, France.
authors.forename: Celia
authors.initials: C
authors.lastname: Crétolle
authors.forename: Michel
authors.initials: M
authors.lastname: Zérah
authors.forename: Francis
authors.initials: F
authors.lastname: Jaubert
authors.forename: Sabine
authors.initials: S
authors.lastname: Sarnacki
authors.forename: Yann
authors.initials: Y
authors.lastname: Révillon
authors.forename: Stanislas
authors.initials: S
authors.lastname: Lyonnet
authors.forename: Claire
authors.initials: C
authors.lastname: Nihoul-Fékété
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology / Q000601:surgery*; D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005260:Female; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007223:Infant; D007418:Intestinal Pseudo-Obstruction; D008297:Male; D019635:Neurosurgical Procedures / Q000379:methods; D012007:Rectum / Q000002:abnormalities* / Q000601:surgery; D012189:Retrospective Studies; D012447:Sacrum / Q000002:abnormalities* / Q000473:pathology / Q000601:surgery; D013116:Spinal Cord / Q000002:abnormalities*; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D016896:Treatment Outcome
chemical_list: D018398:Homeodomain Proteins; C490003:MNX1 protein, human; D014157:Transcription Factors