Inflammatory-like presentation of CADASIL: a diagnostic challenge
CADASIL 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.
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 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).
In rare cases, an inflammatory-like process can occur in CADASIL. In these patients, immunomodulatory treatments, including corticosteroids, could be effective.
- Inflammatory-like presentation of CADASIL: a diagnostic challenge
- Open Access
- Available under Open Access This content is freely available online to anyone, anywhere at any time.
- Online Date
- August 2012
- Online ISSN
- BioMed Central
- Additional Links
- Multiple sclerosis
- Cerebral vasculitis
- Author Affiliations
- 1. Department of Neurology, Strasbourg University Hospital, 1, Avenue Molière, 67000, Strasbourg, France
- 2. Department of Neurology, Caen University Hospital, Caen, 14000, France
- 3. Department of Neurology, Montpellier University Hospital, Montpellier, 34000, France