Rev Neurol (Paris). 2004 Apr;160(4 Pt 1):447-51
Feuillet L, Boudinet H, Casseron W, Uzenot D, Pelletier J, Ali Cherif A.
Service de Neurologie, Faculte de Medecine de Marseille, Universite de la Mediterranee. Assistance Publique - Hopitaux de Marseille, Hopital la Timone, Marseille.
Association between neurofibromatosis type 1 (NF-1) and multiple sclerosis (MS) has been very rarely described.
We report the case of a 40-Year-old woman presenting familial NF-1 who had cafe au lait spots and cutaneous neurofibromatosis since childhood.
Five Years earlier, she experienced a first episode of unilateral optic neuritis, recurrent sensory and motor disturbances, then gait ataxia and pyramidal tract dysfunction with progressive walking impairment.
Altered evoked potentials, CSF analysis and cerebral MRI findings were consistent with the diagnosis of MS (secondary progressive form after relapsing-remitting phase).
We review major demographic, clinical and laboratory data of MS associated with NF-1 and discuss about the potential pathophisiological mechanisms implied.