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BMC Neurology
Published in: BMC Neurology 1/2022

Open Access 01-12-2022 | Magnetic Resonance Imaging | Case report

Recurrent generalized seizures as the prominent manifestation in a patient with CADASIL: a case report and literature review

Authors: Liuhua Pan, Yan Chen, Shanshan Zhao

Published in: BMC Neurology | Issue 1/2022

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Abstract

Background

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited arteriopathy typically caused by mutations in the NOTCH-3 gene. Few detailed descriptions of recurrent generalized seizures in CADASIL has been reported.

Case presentation

This article details a case of recurrent generalized seizures, which eventually be diagnosed as CADASIL with a heterozygous variant, c.1630 C > T (p. Arg544Cys), in exon 11 of the Notch 3 gene. Here, we discussed the possible pathogenesis underlying the epilepsy associated with CADASIL through the brain magnetic resonance imaging changes and the captured epileptiform waves in the electroencephalography during the patient’s follow-up period. Related literatures were also reviewed to discuss the etiology of the epilepsy.

Conclusions

Recurrent generalized seizures may be a presenting neurological manifestation of CADASIL in the absence of other discernible causes. Clinicians should comprehensively seek the possible etiology of patients with recurrent generalized seizures, considering the possible diagnosis of CADASIL.
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Metadata
Title
Recurrent generalized seizures as the prominent manifestation in a patient with CADASIL: a case report and literature review
Authors
Liuhua Pan
Yan Chen
Shanshan Zhao
Publication date
01-12-2022
Publisher
BioMed Central
Published in
BMC Neurology / Issue 1/2022
Electronic ISSN: 1471-2377
DOI
https://doi.org/10.1186/s12883-022-02889-7

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