RESUMEN
Epileptic encephalopathies with continuous spike-and-waves during sleep (CSWS) are characterized by cognitive or language impairment, and are occasionally associated with pathogenic variants of the GRIN2A gene. In these disorders, speech dysfunction could be either related to cerebral dysfunction caused by the GRIN2A deleterious variant or intense interictal epileptic activity. Here, we present a patient with apraxia of speech, clearly linked to severity of epilepsy, carrying a GRIN2A variant. A 6-year-old boy developed acute regression of expressive language following epileptic seizures, leading to complete mutism, at which time EEG revealed CSWS. MEG showed bilateral superior parietal and opercular independent CSWS onsets and PET with fluorodeoxyglucose demonstrated significant increase in relative glucose metabolism in bilateral superior parietal regions. Corticosteroids induced a regression of CSWS together with impressive improvement in speech abilities. This case supports the hypothesis of a triggering role for epileptic discharges in speech deterioration observed in children carrying a deleterious variant of GRIN2A. When classic antiepileptic drugs fail to control epileptic activity, corticosteroids should be considered. Multimodal functional neuroimaging suggests a role for opercular and superior parietal areas in acquired epileptic opercular syndrome. [Published with video sequences on www.epilepticdisorders.com].
Asunto(s)
Encéfalo/fisiopatología , Epilepsia del Lóbulo Frontal/genética , Receptores de N-Metil-D-Aspartato/genética , Niño , Electroencefalografía , Epilepsia del Lóbulo Frontal/fisiopatología , Humanos , MasculinoRESUMEN
Through a survey of more than 20 patients with a specific subgroup of autosomal recessive congenital cutis laxa (ARCL), namely ATP6V0A2-related cutis laxa, we noted that the clinical findings on three patients included pretibial pseudo-ecchymotic skin lesions very similar to those found in classical Ehlers-Danlos syndrome. The finding is apparently age-related, occurring during the second decade in two of the three patients.
Asunto(s)
Cutis Laxo/diagnóstico , Cutis Laxo/genética , Síndrome de Ehlers-Danlos/diagnóstico , Piel/patología , Biopsia , Niño , Análisis Mutacional de ADN , Diagnóstico Diferencial , Facies , Femenino , Humanos , Masculino , Mutación , Fenotipo , ATPasas de Translocación de Protón/genética , Adulto JovenRESUMEN
We report the case of an 18-month-old boy who presented aphasia and right hemiplegia of acute onset. The neurological deficit completely resolved after a few hours, but identical transient neurological deficits and seizures occurred during the following days. Imaging showed proximal stenosis of the medial cerebral artery and deep ischaemic lesions in the territory of this artery. Analysis of the cerebrospinal fluid showed pleocytosis and an active enteroviral infection with positive RNA detection. The evolution was consistent with transient cerebral arteriopathy of childhood as magnetic resonance angiography showed normalization of the arterial lesions. This is the first report of an enteroviral infection associated with this entity. We want to stress the importance of performing a cerebrospinal fluid analysis when an ischaemic stroke of unclear aetiology occurs in a child.