title: [Radiological findings in Currarino syndrome].
abstract: OBJECTIVE
  To describe the clinical, radiological and genetic findings of a family affected by Currarino syndrome (CS) (agenesis of the sacrum, presacral mass, and anal-rectal anomalies), and to familiarise the radiologist with this condition that, although uncommon, could be suspected by its characteristic images.
  
  
  METHODS
  A study was made of 8 out of 9 family members (the parents, 7 siblings; 4 males and 3 females) suspected of having CS. The clinical and genetic findings are described. Using simple X-rays, ultrasound and magnetic resonance imaging, the presence of agenesis of the sacrum, a presacral mass and anal-rectal anomalies were investigated. Furthermore, a genetic analysis of the HLBX9 gene was performed. Permission by the Ethics Committee was not requested as all the family members gave their consent by signing a document.
  
  
  RESULTS
  The mother with a scimitar-shaped sacrum confirmed that she was the transmitter of the genetic mutation. One of the seven siblings had complete CS (sacral agenesis, anorectal stenosis, and anterior meningocele). Four siblings had an incomplete CS: 3 with sacral agenesis and a presacral mass (two anterior meningoceles and one teratoma) and the fourth with sacral agenesis and anorectal stenosis. One sibling had no anomalies. The mother, as well as four siblings, did not have the HLXB9 gene mutation.
  
  
  CONCLUSIONS
  When there is sacral agenesis, the possibility of presacral masses and anorectal changes should be investigated. Likewise, if there is familial association, they should be investigated for a CS.
authors.affiliation: Servicio de Radiología, Hospital San Pedro, Logroño, España. carmenpvl@hotmail.com
authors.forename: C
authors.initials: C
authors.lastname: Pérez Vega-Leal
authors.forename: C
authors.initials: C
authors.lastname: Sainz Gómez
authors.forename: E
authors.initials: E
authors.lastname: Ubis Rodríguez
authors.forename: E
authors.initials: E
authors.lastname: Garrido-Domínguez
authors.forename: A
authors.initials: A
authors.lastname: Díez Fernández
authors.forename: V
authors.initials: V
authors.lastname: Rubio Viguera
mesh_terms: D000328:Adult; D000368:Aged; D001003:Anal Canal / Q000002:abnormalities* / Q000000981:diagnostic imaging; D004065:Digestive System Abnormalities / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011859:Radiography; D012007:Rectum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D012447:Sacrum / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013595:Syringomyelia / Q000175:diagnosis / Q000000981:diagnostic imaging* / Q000235:genetics