title: Retrospective analysis of patients attending a neurofibromatosis type 1 clinic.
abstract: OBJECTIVE
  To undertake a retrospective analysis of the patients who attended the neurofibromatosis type 1 clinic (NF clinic) at the Royal Children's Hospital, Melbourne between March 2001 and May 2004. From this analysis, we aimed to ascertain the frequency and nature of complications of NF1 in this cohort and compare this with other large series.
  
  
  METHODS
  Genetic files and hospital records of patients who attended the NF clinic were reviewed. Data regarding the clinical features and NF1-related complications present in the patient population were entered into a database and then analysed.
  
  
  RESULTS
  Data were available for 121 patients with presumed or confirmed diagnoses of NF1 who attended the NF clinic between the study dates. While most patients were referred to the clinic for 'routine surveillance', complications of NF1 were common. Forty-four per cent of patients had learning difficulties, 21% had optic gliomas and 17% had plexiform neurofibromas. Fifty-five per cent of those with plexiform neurofibromas required at least one surgical procedure.
  
  
  CONCLUSIONS
  The NF clinic was accessed by patients of all ages to assist with diagnosis, provide routine surveillance and manage complex complications of NF1. The prevalence and range of complications of NF1 of the patients attending this clinic is similar to other large retrospective studies in tertiary centres.
authors.affiliation: Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Victoria, Australia.
authors.forename: Fiona
authors.initials: F
authors.lastname: Noble
authors.forename: Andrew J
authors.initials: AJ
authors.lastname: Kornberg
authors.forename: James E
authors.initials: JE
authors.lastname: Elder
authors.forename: Martin B
authors.initials: MB
authors.lastname: Delatycki
mesh_terms: D000293:Adolescent; D000328:Adult; D000554:Ambulatory Care Facilities; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000150:complications*; D012189:Retrospective Studies; D014739:Victoria