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Case Reports in Medicine
Volume 2012, Article ID 479632, 3 pages
Case Report

A Case of Persistent Foot Pain in a Neurofibromatosis Type I Patient

1Department of Neurosurgery, John Radcliffe Hospital, Headington, Oxford OX3 9DU, UK
2Department of Trauma and Orthopedics, St Mary’s Hospital, Newport, Isle of Wight PO30 5TG, UK

Received 30 March 2011; Revised 17 October 2011; Accepted 18 October 2011

Academic Editor: Christian Urban

Copyright © 2012 Vasilis Stavrinides and Salim Nasra. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


Introduction. This is the case of a young male patient who presented to his family physician with atypical left foot pain, which was extremely resistant to analgesia and caused significant disability. Despite extensive investigations, the cause of his pain was not identified until 18 months after his initial symptoms, when the official diagnosis of malignant peripheral nerve sheath tumour (MPNST) was made. Detailed review of the patient’s past history established the diagnosis of type I neurofibromatosis (NF-1), previously undetected. Discussion. NF-1 is an autosomal dominant genetic disorder caused by loss of function mutations of the NF1 gene in chromosome 17. Patients with this condition are at increased risk for developing MPNSTs which, however, are treatable only in early stages. Conclusion. Although monitoring NF-1 patients for the development of MPNSTs is common practice, the index of clinical suspicion in patients without an established NF-1 diagnosis is low. Any atypical pain in young adults should raise the possibility of this malignancy, and this case illustrates the fact that MPNSTs can be the first manifestation of NF-1 in patients previously undiagnosed with the disease.