Abstract
BackgroundCADASIL is an autosomal dominant genetic leukoencephalopathy linked to mutations in the Notch3 gene. In rare cases, widespread brain lesions on T2 MRI mimicking multiple sclerosis are observed. From a national registry of 268 patients with adult-onset leukodystrophy, we identified two patients with an atypical presentation of CADASIL without co-occurrence of another systemic disease.Case presentationsPatient 1 experienced progressive gait disability and patient 2 relapsing optic neuritis and sensory-motor deficit in the leg. Both patients responded to corticotherapy and patient 2 was also responsive to glatiramer acetate. No oligoclonal bands were found in the CSF, and MRI showed myelitis and lesions with gadolinium enhancement in brain (patient 1) or incomplete CADASIL phenotype (patient 2).ConclusionsIn rare cases, an inflammatory-like process can occur in CADASIL. In these patients, immunomodulatory treatments, including corticosteroids, could be effective.
Highlights
CADASIL is an autosomal dominant genetic leukoencephalopathy linked to mutations in the Notch3 gene
In rare cases, an inflammatory-like process can occur in CADASIL
In patient 1, a cysteine had replaced arginine at codon 90 and in patient 2 arginine was substituted by cysteine at codon 558
Summary
CADASIL is an autosomal dominant genetic leukoencephalopathy linked to mutations in the Notch gene. From a national registry of 268 patients with adult-onset leukodystrophy, we identified two patients with an atypical presentation of CADASIL without co-occurrence of another systemic disease. Case presentations: Patient 1 experienced progressive gait disability and patient 2 relapsing optic neuritis and sensory-motor deficit in the leg. Both patients responded to corticotherapy and patient 2 was responsive to glatiramer acetate. CADASIL is an autosomal dominant vasculopathy that includes subcortical infarct and leukoencephalopathy This disorder is linked to mutations in the Notch gene, mostly located in exons 2-24 [1]. We identified 23 patients with CADASIL, two of whom presented atypical clinical and radiological signs mimicking MS. We describe these two cases and discuss the particularities of this inflammatory-like presentation of CADASIL
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