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Neurofibromatosis 1-associated neuropathies: a reappraisal.
- Source :
-
Brain : a journal of neurology [Brain] 2004 Sep; Vol. 127 (Pt 9), pp. 1993-2009. Date of Electronic Publication: 2004 Aug 02. - Publication Year :
- 2004
-
Abstract
- Neurofibromatosis 1 (NF1) is a common disease which is a source of various multisystemic manifestations related either to the accumulation of neurofibromas or to specific developmental abnormalities. The neurofibroma is the hallmark lesion of NF1 and develops from peripheral nerves. However, to date, the description of peripheral neuropathies of NF1 has not been investigated. To examine this question, we have evaluated 688 NF1 patients for the presentation, prognosis and associated morbidity of peripheral neuropathies in two hospital-based series. We collected 18 patients (four women and 14 men) with diffuse peripheral neuropathy (2.3%). Eight patients had a paucisymptomatic or an asymptomatic neuropathy detected only on electrophysiological study, two had minor sensory manifestations, five had moderate motor and sensory manifestations and three had severe motor and sensory manifestations. Superimposed radicular changes were observed in seven cases. Two patients had a subacute and 16 a chronic polyneuropathy. Fourteen patients had a demyelinating neuropathy with either severe axonal changes (three), moderate or minor axonal changes (four) or no axonal changes (seven). Four patients had axonal neuropathies. There was a strong association between the presence of a peripheral neuropathy and large root diffuse neurofibromas (P < 0.03) and subcutaneous neurofibromas (P < 0.0001). Severe morbidity and mortality of patients with NF1 and peripheral neuropathies was 50%, much higher than what is observed in the general population of patients with NF1, and 100% in patients with the most severe symptoms and electrophysiological changes (demyelination with severe axonal features). Four patients out of 18 (22%) developed a malignant peripheral nerve sheath tumour (MPNST), a much higher proportion than in the whole population of NF1. Two patients died. Peripheral neuropathy constitutes a potentially severe complication in patients with NF1 associated with a frequent morbidity related to spinal complications and MPNSTs. Association of proximal large neurofibromas, peripheral neuropathies and subcutaneous neurofibromas may constitute a phenotype of NF1 with a severe prognosis.
- Subjects :
- Adolescent
Adult
Axons pathology
Demyelinating Diseases complications
Demyelinating Diseases pathology
Female
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Morbidity
Motor Activity physiology
Nerve Sheath Neoplasms complications
Nerve Sheath Neoplasms pathology
Neural Conduction physiology
Neurofibromatosis 1 complications
Peripheral Nervous System Diseases complications
Prognosis
Sensation Disorders complications
Sensation Disorders pathology
Severity of Illness Index
Time Factors
Neurofibromatosis 1 pathology
Peripheral Nervous System Diseases pathology
Subjects
Details
- Language :
- English
- ISSN :
- 1460-2156
- Volume :
- 127
- Issue :
- Pt 9
- Database :
- MEDLINE
- Journal :
- Brain : a journal of neurology
- Publication Type :
- Academic Journal
- Accession number :
- 15289270
- Full Text :
- https://doi.org/10.1093/brain/awh234