title: Status epilepticus in a patient with fragile X syndrome: electro-clinical features and peri-ictal neuroimaging.
abstract: Fragile X syndrome (Fra-X) is a common cause of mental retardation that can be associated with partial epilepsy characterized by a variety of electro-clinical features. A wide spectrum of interictal activities are reported, although no data regarding ictal EEG activity have as yet been published. Drug-resistant seizures are uncommon, and the occurrence of clustering seizures or status epilepticus has only been reported anecdotally. We describe a Fra-X patient with refractory partial epilepsy related to a malformation of cortical development who experienced a partial status epilepticus that was well documented by video-EEG and MRI. We report the electro-clinical features and peri-ictal neuroimaging data.
authors.affiliation: Department of Neurological Sciences, Rome, Italy. c_dibonaventura@yahoo.it
authors.forename: Carlo
authors.initials: C
authors.lastname: Di Bonaventura
authors.forename: Francesco
authors.initials: F
authors.lastname: Mari
authors.forename: Alberto
authors.initials: A
authors.lastname: Pierallini
authors.forename: Oriano
authors.initials: O
authors.lastname: Mecarelli
authors.forename: Franco
authors.initials: F
authors.lastname: Randi
authors.forename: Mario
authors.initials: M
authors.lastname: Manfredi
authors.forename: Massimiliano
authors.initials: M
authors.lastname: Prencipe
authors.forename: Anna Teresa
authors.initials: AT
authors.lastname: Giallonardo
mesh_terms: D000293:Adolescent; D002540:Cerebral Cortex / Q000002:abnormalities / Q000473:pathology; D002552:Cerebral Ventricles / Q000002:abnormalities / Q000473:pathology; D004351:Drug Resistance; D004569:Electroencephalography; D005600:Fragile X Syndrome / Q000150:complications*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D013226:Status Epilepticus / Q000175:diagnosis* / Q000209:etiology* / Q000473:pathology