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Multiple sclerosis or "inflammatory CADASIL?": Case Report and review of the literature
N Schiess1, K Huether2, M Szolics3
1Department of Neurology, The Johns Hopkins Hospital, Baltimore, MD, United States; Department of Neurology, Tawam Hospital, Al Ain, United Arab Emirates.
Background:
Multiple sclerosis (MS) and CADASIL presenting together is exceedingly rare. As more cases of "inflammatory" CADASIL emerge, diagnostic challenges for clinicians increase. We report an individual with MS and CADASIL presenting with cognitive decline at age 25. She presented with gadolinium enhancing lesions on MRI and inflammatory cerebrospinal fluid raising the question of whether these patients should be given a diagnosis of "inflammatory CADASIL" or both MS and CADASIL.
Methods:
A literature review was conducted on reports of inflammatory CADASIL or MS and CADASIL, clinical presentations including spinal cord lesions and CSF inflammatory markers.
Results:
Nine cases in the literature of individuals with CADASIL and inflammatory presentations were found with treatment varying from intravenous steroids to MS immunomodulatory therapy.
Conclusions:
If individuals with CADASIL present with immune mediated inflammatory components they may benefit from immunomodulatory therapy. This is discussed with a review of the inflammatory CADASIL/MS cases in the literature and report of a case.
Insights
The rare co-occurrence of Multiple Sclerosis (MS) and Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) presents diagnostic challenges. Early inflammatory presentations in CADASIL may indicate a need for immunomodulatory therapies, similar to MS treatment.
Area of Science:
- Neurology
- Genetics
- Immunology
Background:
- Co-occurrence of Multiple Sclerosis (MS) and Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is exceptionally rare.
- Emerging cases of
Observation:
- A case of a 25-year-old presenting with cognitive decline, gadolinium-enhancing MRI lesions, and inflammatory cerebrospinal fluid (CSF) is detailed.
- This presentation raises diagnostic questions regarding "inflammatory CADASIL" versus coexisting MS and CADASIL.
Findings:
- A literature review identified nine cases of CADASIL with inflammatory presentations.
- Treatments in these cases varied, including intravenous steroids and MS immunomodulatory therapy.
Implications:
- Individuals with CADASIL exhibiting immune-mediated inflammatory features may benefit from immunomodulatory treatments.
- This highlights the importance of considering inflammatory etiologies in CADASIL patients and potential overlap with MS diagnostic criteria.
