Coexistence of idiopathic rolandic epilepsy and CSWS in two families.
OBJECTIVE
To report two families combining benign childhood epilepsy with centrotemporal spikes (BCECS) and cryptogenic epilepsy with continuous spike-waves during sleep (CSWS) in first-degree relatives.


METHODS
Clinical, EEG, and cerebral imaging data are described.


RESULTS
FAMILY 1: The proband was 3 years old at epilepsy onset. First seizures were convulsive, with centrotemporal spikes on EEG. At age 5 years, he had complex partial seizures, psychomotor regression, and centrotemporal CSWS. [(18)F]fluorodeoxyglucose (FDG) positron emission tomography (PET) showed left parietal hypermetabolism. After several antiepileptic drug (AED) trials, valproate (VPA) and ethosuximide (ESM) induced seizure remission, CSWS disappearance, and psychomotor improvement. Learning disabilities, however, persisted. Family history was remarkable for BCECS in his father. FAMILY 2: The proband was 2 years old at epilepsy onset. First seizures were convulsive, with centrotemporal CSWS on EEG. Despite several AED trials including corticosteroids, focal negative myoclonia, atypical absences, and psychomotor regression occurred, leading to severe mental retardation. FDG-PET showed bilateral parietal hypermetabolism. Vagus nerve stimulator was implanted. Her family history was remarkable for BCECS in her father and febrile convulsions in infancy in her mother.


CONCLUSIONS
These data suggest the existence of a common genetic basis between BCECS and cryptogenic epilepsies with CSWS. The higher expression in patients with CSWS could be related to other genetic or acquired factors. These data suggest that these epileptic syndromes constitute edges of a continuum.
De Tiège
Xavier
X
Department of Pediatric Neurology, ULB-Hôspital Erasme, Université Libre de Brussels, Brussles, Belgium. xdetiege@ulb.ac.be
Goldman
Serge
S
Verheulpen
Denis
D
Aeby
Alec
A
Poznanski
Nathalie
N
Van Bogaert
Patrick
P
D002540:Cerebral Cortex / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D015897:Comorbidity; D004569:Electroencephalography / Q000706:statistics & numerical data; D004827:Epilepsy / Q000175:diagnosis / Q000453:epidemiology / Q000503:physiopathology; D019305:Epilepsy, Rolandic / Q000453:epidemiology* / Q000235:genetics / Q000503:physiopathology; D005190:Family; D019788:Fluorodeoxyglucose F18; D006801:Humans; D049268:Positron-Emission Tomography; D012890:Sleep / Q000502:physiology
D019788:Fluorodeoxyglucose F18