title: Rub epilepsy in an infant with Turner syndrome.
abstract: We report a case of infantile refractory epilepsy associated with Turner syndrome (TS), showing very frequent, focal clonic seizures of the left upper extremity. Characteristically, in addition to spontaneous fits, her seizure was inducible by rubbing her left hand and forearm for a few seconds. Accordingly, she was diagnosed with a rare form of reflex epilepsy, "rub epilepsy". Neuroradiological investigation indicated the existence of cortical abnormalities, such as focal cortical dysplasia of the right parietal lobe. Patients with TS are reported to have neuroanatomical abnormalities, especially of the parietal lobe. Thus, our case may imply a causal relationship between potential cortical hyperexcitability of the parietal lobe and epilepsy in TS. This is the first reported infantile case of rub epilepsy, and more generally, reflex epilepsy associated with TS.
authors.affiliation: Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Niigata, Japan. Electronic address: magara@masa.go.jp.
authors.forename: Shin-Ichi
authors.initials: S
authors.lastname: Magara
authors.affiliation: Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Niigata, Japan.
authors.forename: Hideshi
authors.initials: H
authors.lastname: Kawashima
authors.affiliation: Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Niigata, Japan.
authors.forename: Yu
authors.initials: Y
authors.lastname: Kobayashi
authors.affiliation: Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Niigata, Japan.
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Akasaka
authors.affiliation: Department of Pediatrics, Niigata City General Hospital, Niigata, Japan.
authors.forename: Sawako
authors.initials: S
authors.lastname: Yamazaki
authors.affiliation: Department of Child Neurology, Nishi-Niigata Chuo National Hospital, Niigata, Japan.
authors.forename: Jun
authors.initials: J
authors.lastname: Tohyama
mesh_terms: D001921:Brain / Q000473:pathology* / Q000503:physiopathology*; D004569:Electroencephalography; D020195:Epilepsy, Reflex / Q000150:complications / Q000473:pathology* / Q000503:physiopathology*; D005260:Female; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D014424:Turner Syndrome / Q000150:complications / Q000473:pathology* / Q000503:physiopathology*
keywords: Focal clonic seizures; Focal cortical dysplasia; Rub epilepsy; Turner syndrome