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Focal epilepsy as first symptom in CADASIL
Reana Velizarova1, Isabelle Mourand, Anna Serafini
1Epilepsy Unit, Gui de Chauliac Hospital, Montpellier, France.
Insights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) can present with focal epilepsy. This case highlights new-onset seizures leading to a CADASIL diagnosis in a young woman without cognitive decline.
Area of Science:
- Neurology
- Neurogenetics
- Epileptology
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a genetic condition.
- Principal symptoms include transient ischemic attacks, migraine, and dementia.
- Epileptic seizures occur in approximately 10% of patients, often linked to ischemic stroke.
Abstract:
Recurrent transient ischemic attacks, migraine and dementia represent the principal symptoms of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). During the course of the disease, about 10% of patients may experience epileptic seizures, mainly related to the presence of an ischemic stroke. We present a 30-year-old woman with new-onset focal epilepsy leading to the diagnosis of CADASIL. The neuropsychological testing revealed no cognitive impairment. Interictal EEG demonstrated spikes and polyspikes with low amplitude over the right occipital region during NREM sleep. MRI showed white-matter hyperintensities on both hemispheres with confluent lesions at the right parieto-occipital junction, with juxtacortical components. Like in multiple sclerosis, we can suppose that this type of white matter lesions, close to the cortex, may be causative of seizures.
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