Brachial plexopathy due to malignant peripheral nerve sheath tumor in neurofibromatosis type 1: Case report and subject review

• Published in: Muscle & nerve Vol. 33; no. 5; pp. 697 - 700
• Main Authors: Pacelli, James, Whitaker, Charles H.
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.05.2006; Wiley
• Subjects: Biological and medical sciences; brachial plexopathy; Brachial Plexus Neuropathies - etiology; Brachial Plexus Neuropathies - pathology; Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction; Humans; Magnetic Resonance Imaging - methods; Male; malignant peripheral nerve sheath tumor; Medical sciences; Middle Aged; Nerve Sheath Neoplasms - complications; Nerve Sheath Neoplasms - pathology; Nervous system (semeiology, syndromes); Neurofibromatosis 1 - complications; Neurofibromatosis 1 - pathology; neurofibromatosis type 1; Neurology; peripheral nervous system tumor; plexiform neurofibroma; Peripheral nerve; Skin disease; malignant peripheral nerve sheath tumor; Pruritus; Neurofibromatosis Recklinghausen; Pain; brachial plexopathy; Shoulder; Weakness; Degeneration; Peripheral nerve disease; Benign neoplasm; Brachialis plexus syndrome; Neurological disorder; plexiform neurofibroma; Human; Peripheral nervous system; Nervous system diseases; Phacomatosis; Neurinoma; Malignant tumor; Genetic disease; peripheral nervous system tumor; Central nervous system disease; neurofibromatosis type 1; Mutation; Neurofibroma
• ISSN: 0148-639X; 1097-4598
• DOI: 10.1002/mus.20486

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