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A case of persistent foot pain in a neurofibromatosis type I patient

Stavrinides, V; Nasra, S; (2012) A case of persistent foot pain in a neurofibromatosis type I patient. Case Reports in Medicine , 2012 , Article 479632. 10.1155/2012/479632. Green open access

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Abstract

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.

Type: Article
Title: A case of persistent foot pain in a neurofibromatosis type I patient
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1155/2012/479632
Publisher version: http://dx.doi.org/10.1155/2012/479632
Language: English
Additional information: This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
URI: http://discovery.ucl.ac.uk/id/eprint/10046135
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