Inflammatory-like presentation of CADASIL: a diagnostic challenge.
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.


METHODS
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.
Department of Neurology, Strasbourg University Hospital, 1, Avenue Molière, 67000, Strasbourg, France. nicolas.collongues@chru-strasbourg.fr
Nicolas
N
Collongues
Nathalie
N
Derache
Frédéric
F
Blanc
Pierre
P
Labauge
Jérôme
J
de Seze
Gilles
G
Defer
D046589:CADASIL / Q000150:complications* / Q000175:diagnosis*; D003937:Diagnosis, Differential; D004660:Encephalitis / Q000175:diagnosis* / Q000209:etiology*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009187:Myelitis / Q000175:diagnosis* / Q000209:etiology*