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CADASIL imitating multiple sclerosis: the importance of MRI markers
S O'Riordan1, A M Nor, M Hutchinson
1Department of Neurology, St Vincent's University Hospital, Dublin, Ireland.
Abstract:
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can mimic multiple sclerosis (MS), leading to diagnostic confusion. We report a family with CADASIL in which the index case and the daughter of the index case were initially erroneously diagnosed with MS. Relatively specific magnetic resonance imaging (MPI) markers of CADASIL include involvement of the anterior temporal lobes and external capsules and, as illustrated in this report, these MRI findings may aid in the differentiation of the two conditions.
Insights
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can be mistaken for multiple sclerosis (MS). Specific MRI findings can help differentiate these conditions, preventing misdiagnosis.
Area of Science:
- Neurology
- Neuroimaging
- Genetics
Background:
- Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic condition.
- CADASIL can present with symptoms that mimic multiple sclerosis (MS).
- Diagnostic confusion between CADASIL and MS can lead to delayed or incorrect treatment.
Observation:
- This report details a family with CADASIL.
- The index case and her daughter were initially misdiagnosed with MS.
- The family's MRI scans revealed specific patterns.
Findings:
- Magnetic resonance imaging (MRI) markers can help distinguish CADASIL from MS.
- Specific MRI findings include involvement of the anterior temporal lobes and external capsules in CADASIL.
- These imaging findings are crucial for accurate diagnosis.
Implications:
- Accurate differentiation between CADASIL and MS is vital for appropriate patient management.
- Recognizing specific MRI patterns can improve diagnostic accuracy for CADASIL.
- This can prevent misdiagnosis and ensure timely, correct treatment for patients with CADASIL.