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Journal of Pediatric Epilepsy 2014; 03(02): 121-125
DOI: 10.3233/PEP-14085
Case Report
Georg Thieme Verlag KG Stuttgart – New York

Epilepsy in patients with Charcot Marie Tooth disease: Phenotypic spectrum or two different diseases?

Imen Abid
a   Research Unit Neuropediatrics, Sfax University, Sfax, Tunisia
,
Fatma Kamoun
a   Research Unit Neuropediatrics, Sfax University, Sfax, Tunisia
b   Department of Child Neurology, Sfax University, Sfax, Tunisia
,
Chokri Boubaker
c   Inserm, UMR S 910, Marseille, France
d   Aix Marseille University, GMGF, Marseille, France
,
Valérie Delague
c   Inserm, UMR S 910, Marseille, France
d   Aix Marseille University, GMGF, Marseille, France
,
Chahnez Triki
a   Research Unit Neuropediatrics, Sfax University, Sfax, Tunisia
b   Department of Child Neurology, Sfax University, Sfax, Tunisia
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Publikationsdatum:
18. Juli 2015 (online)

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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