title: Currarino syndrome at Rikshospitalet 1961-2012.
abstract: BACKGROUND
  Currarino syndrome is a rare hereditary condition with constipation as the main symptom. The typical patient has a combination of sacral, anorectal, intraspinal and presacral anomalies. Familial cases most often have a mutation in the MNX1 gene. The majority of Norwegian Currarino patients are treated at Rikshospitalet. This article gives an account of 50 years of experience with the condition.
  
  
  METHODS
  The study is based on the medical records of patients with Currarino syndrome, as well as some first-degree relatives, from the period 1961-2012. We recorded the results of mutation analysis, X-ray of the sacrum, and ultrasound, MRI and/or CT scans, as well as the treatments administered.
  
  
  RESULTS
  We treated 29 patients over the period in question, and in addition identified seven healthy relatives with a mutation in MNX1 and one relative with a pathognomonic sacral anomaly. There were 15 familial and 14 sporadic cases. Fourteen familial cases and one of the sporadic cases were shown to have a mutation in the MNX1 gene. Phenotypic variation was pronounced, and we saw no obvious correlation between genotype and phenotype. Twenty-six of the patients had constipation and 15 underwent a colostomy. Fourteen patients required neurosurgical and seven urogenital interventions. No patients had malignant disease.
  
  
  CONCLUSIONS
  Patients with Currarino syndrome have a highly variable clinical presentation with constipation as the main problem. In patients with a familial syndrome, a mutation in the MNX1 gene can be expected.
authors.forename: Tom
authors.initials: T
authors.lastname: Monclair
authors.forename: Tryggve
authors.initials: T
authors.lastname: Lundar
authors.forename: Bjarne
authors.initials: B
authors.lastname: Smevik
authors.forename: Ingunn
authors.initials: I
authors.lastname: Holm
authors.forename: Karen Helene
authors.initials: KH
authors.lastname: Ørstavik
mesh_terms: D001003:Anal Canal / Q000002:abnormalities* / Q000601:surgery; D003248:Constipation / Q000209:etiology / Q000601:surgery; D004065:Digestive System Abnormalities / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D018398:Homeodomain Proteins / Q000235:genetics; D006783:Hospitals, State / Q000706:statistics & numerical data*; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D009664:Norway; D012007:Rectum / Q000002:abnormalities* / Q000601:surgery; D012447:Sacrum / Q000002:abnormalities* / Q000601:surgery; D013595:Syringomyelia / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D014057:Tomography, X-Ray Computed; D014157:Transcription Factors / Q000235:genetics
chemical_list: D018398:Homeodomain Proteins; C490003:MNX1 protein, human; D014157:Transcription Factors