Non-convulsive status epilepticus as the initial manifestation in a family with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)

Abstract

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.

Keywords: Arteriopatía cerebral con infartos subcorticales y leucoencefalopatía; CADASIL; Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy; Epilepsia; Epilepsy; NOTCH3; Non-convulsive status epilepticus; Status epilepticus; Status epilepticus no convulsivo.