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Inflammatory-like presentation of CADASIL: a diagnostic challenge
Nicolas Collongues1, Nathalie Derache, Frédéric Blanc
1Department of Neurology, Strasbourg University Hospital, 1, Avenue Molière, 67000, Strasbourg, France. nicolas.collongues@chru-strasbourg.fr
BMC Neurology
|August 22, 2012
Summary
Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) can rarely present with inflammatory-like symptoms. These patients may benefit from immunomodulatory treatments like corticosteroids.
Area of Science:
- Neurology
- Genetics
- Neuroimmunology
Background:
- CADASIL is a genetic leukoencephalopathy caused by Notch3 gene mutations.
- It typically presents with adult-onset neurological deficits.
- Rarely, CADASIL can exhibit widespread brain lesions mimicking multiple sclerosis.
Observation:
- Two patients with atypical CADASIL presented with inflammatory neurological symptoms.
- Patient 1 had gait disability; Patient 2 had optic neuritis and leg deficits.
- Cerebrospinal fluid (CSF) showed no oligoclonal bands, and MRI revealed myelitis and enhancing lesions.
Findings:
- Both patients responded to corticotherapy.
- Patient 2 also showed positive response to glatiramer acetate.
- These findings suggest an inflammatory component in rare CADASIL cases.
Implications:
- CADASIL should be considered in atypical leukoencephalopathy presentations with inflammatory features.
- Immunomodulatory therapies, including corticosteroids, may be effective in managing these rare CADASIL cases.
- Further research is needed to understand the mechanisms of inflammatory processes in CADASIL.
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