RESUMEN
La arteriopatía autosómica dominante cerebral con infartos subcorticales y leucoencefalopatía es una enfermedad autosómica dominante de pequeños vasos causada por mutaciones del gen NOTCH3. Típicamente se presenta con migraña, eventos isquémicos cerebrales recurrentes y trastornos cognitivos. Las crisis epilépticas son inusuales como manifestación inicial, pero aún más infrecuente es su presentación como status epilepticus no convulsivo1. Se presenta una serie familiar de 3 casos con esta arteriopatía, entre los cuales 2 de ellos tuvieron status epilepticus como manifestación de la enfermedad. (AU)
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease caused by mutations of the NOTCH3 gene. It typically presents with migraine, recurrent brain ischaemia, and cognitive disorders. Seizures rarely present as the initial manifestation, with non-convulsive status epilepticus being even less frequent. We present a series of 3 related patients with this arteriopathy, 2 of whom presented status epilepticus as a manifestation of the disease. (AU)
Asunto(s)
Humanos , Masculino , Femenino , Anciano , Arteriopatías Oclusivas , Leucoencefalopatías , Infarto Cerebral , Epilepsia , CADASILRESUMEN
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease caused by mutations of the NOTCH3 gene. It typically presents with migraine, recurrent brain ischaemia, and cognitive disorders. Seizures rarely present as the initial manifestation, with non-convulsive status epilepticus being even less frequent. We present a series of 3 related patients with this arteriopathy, 2 of whom presented status epilepticus as a manifestation of the disease.
Asunto(s)
CADASIL , Leucoencefalopatías , Estado Epiléptico , Humanos , CADASIL/complicaciones , CADASIL/diagnóstico , CADASIL/genética , Infarto Cerebral , Imagen por Resonancia Magnética , Receptor Notch3/genética , Estado Epiléptico/etiologíaRESUMEN
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease caused by mutations of the NOTCH3 gene. It typically presents with migraine, recurrent brain ischaemia, and cognitive disorders. Seizures rarely present as the initial manifestation, with non-convulsive status epilepticus being even less frequent. We present a series of 3 related patients with this arteriopathy, 2 of whom presented status epilepticus as a manifestation of the disease.
RESUMEN
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Asunto(s)
Humanos , Masculino , Adulto , Enfermedades de la Médula Espinal/diagnóstico por imagen , Sarcoidosis/diagnóstico por imagen , Imagen por Resonancia MagnéticaRESUMEN
TITLE: Signo del tridente en la neurosarcoidosis medular.