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Open Access Case report

Inflammatory-like presentation of CADASIL: a diagnostic challenge

Nicolas Collongues1*, Nathalie Derache2, Frédéric Blanc1, Pierre Labauge3, Jérôme de Seze1 and Gilles Defer2

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

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BMC Neurology 2012, 12:78  doi:10.1186/1471-2377-12-78

Published: 21 August 2012

Abstract

Background

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.

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 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).

Conclusions

In rare cases, an inflammatory-like process can occur in CADASIL. In these patients, immunomodulatory treatments, including corticosteroids, could be effective.

Keywords:
CADASIL; Multiple sclerosis; Leukoencephalopathy; Notch3; Cerebral vasculitis