Coexistence of Idiopathic Rolandic Epilepsy and CSWS in Two Families

Abstract

Summary:Purpose: 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.

Insights into the pathophysiology of psychomotor regression in CSWS syndromes from FDG‐PET and EEG‐fMRI

“…A minority of CSWS cases have been associated with cortical or thalamic lesions (symptomatic cases), whereas in the other cases, the etiology is unknown (De Tige et al, 2006). In some of the latter cases, the existence of a continuum ranging from asymptomatic carriers of centrotemporal spikes to epilepsies with CSWS is suspected (De Tige et al, 2006).…”

“…A minority of CSWS cases have been associated with cortical or thalamic lesions (symptomatic cases), whereas in the other cases, the etiology is unknown (De Tige et al, 2006). In some of the latter cases, the existence of a continuum ranging from asymptomatic carriers of centrotemporal spikes to epilepsies with CSWS is suspected (De Tige et al, 2006).Epilepsy syndromes with CSWS are characterized by an acute phase defined by the emergence of psychomotor deficits, various types of seizures, and CSWS activity at around 3-8 years of age (Holmes & Lenck-Santini, 2006). This acute phase is followed by a recovery phase in which the patient's clinical condition improves together with the remission of the CSWS pattern.…”

“…This EEG pattern consists of sleep-related activation and diffusion of spike-wave (SW) discharges, usually during more than 85% of non-REM (rapid eye movement) sleep (Tassinari et al, 2000). A minority of CSWS cases have been associated with cortical or thalamic lesions (symptomatic cases), whereas in the other cases, the etiology is unknown (De Tige et al, 2006). In some of the latter cases, the existence of a continuum ranging from asymptomatic carriers of centrotemporal spikes to epilepsies with CSWS is suspected (De Tige et al, 2006).…”

Epilepsy genetics: The ongoing revolution

“…It has been postulated that the epileptic activity during sleep interferes with the physiological slow-wave activity, thereby impairing the neuronal processes and the local plastic changes associated with learning and other cognitive functions [156]. Familial aggregation has long been recognized in RE and relatives of RE patients display a higher risk to epilepsy than control individuals [157,158]. Most RE, however, do not show simple inheritance.…”

A Review of the Not So Benign- Benign Childhood Epilepsy with Centrotemporal Spikes

“…Similarly in other recent studies despite promising logarithm of odds (LOD) scores, no genetic mutations have been identified [31,32]. Recent studies in some families has shown an overlap between epileptic encephalopathy with CSWS, atypical benign partial epilepsy, and BECTS which has led to the concept of a spectrum of epilepsy-aphasia disorders with BECTS at the lower end, the broad less well-defined group of epilepsy-aphasia children in the middle, and classical LKS and the syndrome of CSWS at the extreme end [30,[33][34][35]. This overlap suggests an additional genetic as well as environmental factors which determine whether the spectrum of disease will manifest as BECTS or as epileptic-aphasia spectrum disorder.…”