Affiliations: Research Unit Neuropediatrics, Sfax University, Sfax, Tunisia | Department of Child Neurology, Sfax University, Sfax, Tunisia | Inserm, UMR S 910, Marseille, France | Aix Marseille University, GMGF, Marseille, France
Note: [] Corresponding author: Dr. Fatma Kamoun, Department of Child Neurology, Sfax University, Magida Boulila Street, 3029, Sfax, Tunisia. Tel./Fax: +216 74 242 564; E-mail: [email protected]
Abstract: While the involvement of the central nervous system in clinical phenotype of patients with Charcot Marie Tooth (CMT) disease has been reported in the past, the association with epilepsy has rarely been described. Only a few patients with CMT disease were reported in the literature to have epilepsy. We report the observation of a patient with CMT1A who also developed epileptic seizures. It is interesting to describe this case to show whether CMT and epilepsy are two different expressions of the same genetic abnormality or two different entities occurring together.
Keywords: CMT, epilepsy, central nervous system, child