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Brain Advance Access published online on August 2, 2004
Brain, doi:10.1093/brain/awh234
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Received December 1, 2003
Revised April 19, 2004
Accepted April 23, 2004

Article

Neurofibromatosis 1-associated neuropathies: a reappraisal

Alain Drouet 1, Pierre Wolkenstein 2, Jean-Pascal Lefaucheur 3, Stéphane Pinson 4, Patrick Combemale 5, Romain K. Gherardi 6, Pierre Brugières 7, Jeffrey Salama 8, Pascal Ehre 9, Philippe Decq 10, Alain Créange 11*

1 Service de Neurologie, Hôpital d'Instruction des Armées Desgenettes, Lyon, France; Réseau NF-Rhône-Alpin, Hôpital d'Instruction des Armées Desgenettes, Lyon, France
2 Réseau NF-Mondor, Hôpital Avicenne, Bobigny, France; Service de Dermatologie, Hôpital Avicenne, Bobigny, France
3 Service de Physiologie-Explorations Fonctionnelles, Hôpital Avicenne, Bobigny, France
4 Réseau NF-Rhône-Alpin, Hôpital d'Instruction des Armées Desgenettes, Lyon, France; Laboratoire de Génétique Moléculaire, Hôpital Edouard Herriot, Lyon, France
5 Réseau NF-Rhône-Alpin, Hôpital d'Instruction des Armées Desgenettes, Lyon, France; Service de Dermatologie, Hôpital d'Instruction des Armées Desgenettes, Lyon, France
6 Département de Pathologie, Hôpital Avicenne, Bobigny, France
7 Service de Neuroradiologie, Hôpital Avicenne, Bobigny, France
8 Service de Neurologie, Hôpital Avicenne, Bobigny, France
9 Service de Radiologie, Hôpital d'Instruction des Armées Desgenettes, Lyon, France
10 Réseau NF-Mondor, Hôpital Avicenne, Bobigny, France; Service de Neurochirurgie, Hôpital Henri Mondor, AP-HP, et Université Paris XII, Créteil, France
11 Réseau NF-Mondor, Hôpital Avicenne, Bobigny, France; Service de Neurologie, Hôpital Henri Mondor, AP-HP, et Université Paris XII, Créteil, France

* To whom correspondence should be addressed. E-mail: alain.creange{at}hmn.ap-hop-paris.fr.


  Abstract

Summary 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 neuro-fibromas (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.

Keywords: neurofibromatosis 1; peripheral neuropathy; demyelination; malignant peripheral nerve sheath tumour.
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