A New Family of Autosomal Dominant Rolandic Epilepsy with Speech Dyspraxia: Video-EEG and PET Studies.
Abstract number :
1.145
Submission category :
Year :
2001
Submission ID :
239
Source :
www.aesnet.org
Presentation date :
12/1/2001 12:00:00 AM
Published date :
Dec 1, 2001, 06:00 AM
Authors :
R. Carcangiu, MD, INSERM U 398, Neurology, Strasbourg, France; S. Finck, MD, Pediatry, Haguenau, France; M.P. Valenti, MD, Epilepsy Unit, Neurology, Strasbourg, France; G. Rudolf, PhD, INSERM U 398, Neurology, Strasbourg, France; C. Seegmuller, PhD, INSER
RATIONALE: In 1995, Scheffer et al. (Ann. Neurol.633-42) report a single family with autosomal dominant rolandic epilepsy with speech dyspraxia. The authors highlight the relationship between focal idiopathic epilepsy and acquired epileptic speech disorders. This epilepsy associates :i)age related seizures and centro-temporal discharges similar to that observed in benign rolandic epilepsy. ii) oral and speech dyspraxia cognitive impairment persisting in adulthood similar to that observed in the opercular form of Landau-Kleffner syndrome. We describe a second family of 10 affected and 4 non affected individuals in three generations.
METHODS: Affected members underwent clinical assessment, video polygraphic EEG recordings including sleep studies and neuropsychological investigations especially language and cognitive testing. Neuroimaging and Positron Emission Tomography (PET-FDG) were performed in four individuals.
RESULTS: All affected subjects reported an history of age-related childhood epilepsy, the two youngest still had partial oro-motor seizures. Interictal EEG showed asynchronous biphasic spikes predominant over the centro-temporal regions increased during sleep. EEG abnormalities and seizures disappeared before adolescence. We recorded an opercular seizure alternatively localize on the right and left hemisphere in a five years old boy. MRI was normal but PET-FDG performed during the active phase of the disease showed bilateral hypermetabolism in the opercular regions. Clobazam and ethosuximide were the more effective antiepileptic drug.
CONCLUSIONS: Clinical, video-EEG and neuroimaging data suggest that this family is similar to that described by Scheffer et al. EEG discharges and seizures are age-related and involved rolandic cortex. Metabolic findings and cognitive impairment are similar to that described in the opercular form of Landau-Kleffner syndrome. Genetic study in this family could be relevant to identify candidate genes for benign idiopathic epilepsy as well for Landau-Kleffner syndrome.