Retrospective analysis of patients attending a neurofibromatosis type 1 clinic

Authors

  • Fiona Noble,

    1. Genetic Health Services Victoria, Royal Children’s Hospital,
    2. Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children’s Hospital,
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  • Andrew J Kornberg,

    1. Department of Neurology, Royal Children’s Hospital,
    2. Department of Paediatrics, University of Melbourne, Royal Children’s Hospital and
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  • James E Elder,

    1. Department of Ophthalmology, Royal Children’s Hospital, Melbourne, Victoria, Australia.
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  • Martin B Delatycki

    Corresponding author
    1. Genetic Health Services Victoria, Royal Children’s Hospital,
    2. Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children’s Hospital,
    3. Department of Paediatrics, University of Melbourne, Royal Children’s Hospital and
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Associate Professor Martin Delatycki, Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Royal Children’s Hospital, Flemington Rd, Parkville, Vic. 3052, Australia. Fax: +61 3 8341 6390; email: martin.delatycki@ghsv.org.au

Abstract

Aim:  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.

Conclusion:  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.

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