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Brachial plexopathy due to malignant peripheral nerve sheath tumor in neurofibromatosis type 1: Case report and subject review
Author(s) -
Pacelli James,
Whitaker Charles H.
Publication year - 2006
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.20486
Subject(s) - medicine , neurofibromatosis , plexiform neurofibroma , brachial plexopathy , neurofibroma , malignancy , dysesthesia , brachial plexus , weakness , pathology , peripheral neuropathy , dermatology , surgery , diabetes mellitus , endocrinology
Neurofibromatosis type 1 (NF1) is a common tumor predisposition syndrome affecting approximately 1 in 4,000 persons. It is an autosomal‐dominant disorder with half of the cases resulting from spontaneous mutations. This genetic defect leads to the formation of benign tumors or neurofibromas of the peripheral nervous system. Dermal neurofibromas may cause local discomfort and itching but are rarely associated with neurological deficit and do not undergo malignant change. The more extensive plexiform neurofibromas produce neurological complications in 27%–43% of patients with NF1 and may undergo malignant degeneration in 5% of cases. Patients with NF1 who develop pain or new neurological symptoms should have a rapid and thorough assessment for malignancy. In this report, we illustrate this point by presenting a patient who developed acute shoulder pain and weakness due to malignant degeneration of a plexiform neurofibroma involving the left brachial plexus, and review the literature on this subject. Muscle Nerve, 2006