Generalized Epilepsy in a Patient with GBJ1 X-Linked Charcot-Marie-Tooth Disease
DOI:
https://doi.org/10.46531/sinapse/CC/220038/2022Keywords:
Charcot-Marie-Tooth Disease/ complications, Charcot-Marie-Tooth Disease/ genetics, Epilepsy/genetics, Mutation/geneticsAbstract
Charcot-Marie-Tooth (CMT) disease is an inherited neuropathy known for its genetic and phenotypic heterogeneity. Although unusual, the involvement of the central nervous system (CNS) has also been reported, including epilepsy. A 23-year-old man who at the age of 8 started to develop a gait disturbance. His neurological examination revealed distal weakness, muscular atrophy of the four limbs and decreased deep tendon reflexes. The electromyogram and nerve conduction study revealed a chronic symmetric axonal sensorimotor polyneuropathy. Next generation gene panel sequencing identified a hemizygous variant on GJB1 gene (c.547C>T, p.R183C) consistent with X-linked CMT. At the age of 21, he developed recurrent unprovoked tonic-clonic seizures. An electroencephalogram was consistent with a generalized epilepsy. The association of CMT disease with epilepsy is rare. GJB1 encodes the gap junction protein connexin32, which is expressed primarily in Schwann cells of peripheral nerves but also in oligodendrocytes and certain neuronal populations, possibly explaining the CNS manifestations.Downloads
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