CADASIL mimicking multiple sclerosis: The importance of clinical and MRI red flags |
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Affiliation: | 1. Department of Internal Medicine, AZ Maria Middelares, Ghent, Belgium;2. Department of Laboratory Medicine, AZ Maria Middelares, Ghent, Belgium;3. Department of Clinical Chemistry, Ghent University Hospital, Ghent, Belgium;4. Department of Genetics, Ghent University Hospital, Ghent, Belgium;5. VIB, Department of Medical Protein Research, Ghent University, Ghent, Belgium;1. Department of Epidemiology, Harvard T. H. Chan School of Public Health, Boston, MA, United States;2. Department of Neurology, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, United States;3. Department of Clinical Neurosciences, Calgary Stroke Program, University of Calgary, AB, Canada;2. German Center for Neurodegenerative Diseases (DZNE), Bonn, Germany;3. Department of Neuroradiology, University of Freiburg, Germany;4. Department of Neurology, GFO Kliniken Troisdorf, Germany |
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Abstract: | Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease, manifesting as recurrent ischaemic events, migraine with aura, behavioural disturbance and cognitive decline. We report two patients with CADASIL masquerading as multiple sclerosis (MS). A 23 year old female presented with a visual scotoma and was discovered to have a corresponding retinal cotton wool spot. MRI brain revealed diffuse T2 hyperintensities suggestive of demyelination. A 56 year old male presented with transient sequential paraesthesia, initially of the perineum followed by the right leg. He also reported memory and mood impairment with a history of migraine with aura. MRI of the brain showed diffuse bilateral white matter lesions with sparing of the anterior temporal poles. Both patients satisfied the modified McDonald diagnostic criteria and were initially thought to have MS. However, they did not satisfy the caveat of “no better explanation” and on subsequent testing NOTCH 3 mutations were identified in both patients [1]. These cases highlight the importance of careful clinical assessment and neuroimaging findings in identifying clinical and paraclinical ‘red-flags’ for a diagnosis other than MS. |
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Keywords: | CADASIL MS Multiple sclerosis Mimic Red flag |
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