Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: An Imaging Mimic of Multiple Sclerosis

Abstract

Objective and Importance: To describe the imaging findings of two cases of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) mimicking multiple sclerosis. Clinical Presentation and Intervention: Two cases presenting with neurological signs and symptoms were referred for magnetic resonance imaging (MRI) evaluation of the brain. Case 1 was a 36-year-old female patient presenting with recurrent headaches and recent onset numbness in the fingers of the right hand. Neurological examination showed a mild sensory deficit in the right hand. Case 2 was a 31-year-old female patient presenting with attacks of right-sided numbness of the face and body. The neurological examination revealed a sensory loss in the face and brisk deep tendon reflexes. Routine MRI sequences showed two types of lesions in both cases: ‘punctate’ hyperintense lesions on T₂-weighted images (T₂WI)/fluid-attenuated inversion recovery (FLAIR) images, hypointense on T₁-weighted images (T₁WI) and ‘diffuse’ white matter lesions, hyperintense on T₂WI/FLAIR sequences and isointense to hypointense on T₁WI. All lesions showed no contrast enhancement. Both cases were previously clinically and radiologically diagnosed as multiple sclerosis. There was a strong family history consistent with recurrent infarctions in other family members of both patients. Both cases were later diagnosed as CADASIL by skin biopsy/genetic linkage studies and follow-up. Conclusion:The cases showed that CADASIL causes stroke-like episodes in adults and can mimic multiple sclerosis on imaging. Clinical evaluation and MRI findings allow a differentiation of the two entities.

Diagnosis of inflammatory demyelination in biopsy specimens: a practical approach

“…Multifocal ischaemic lesions may mimic the radiological findings of MS, especially in the early stages [ 68 ]. Histopathologically, hypoxia or ischaemia results in necrosis rather than demyelination.…”

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy vs. multiple sclerosis. Either one or sometimes both?

“…Migraine with aura or the characteristic anterior temporal lesions may be absent in almost 50% and 25% of CADASIL patients respectively [8] and these percentages may be even larger in patients of Chinese origin [9] . Corpus callosum or pericalosal lesions (typically present in MS) may also occur in CADASIL [3,[10][11][12] . Atypical features may increase diagnostic confusion and increased clinical suspicion may be needed to prompt diagnostic testing of NOTCH3.…”

Emerging molecular mechanisms of vascular dementia

“…Much like Alzheimer's disease, vascular pathology in the brain impairs higher cortical processes including reasoning, planning and memory as reduced cerebral blood flow leads to secondary focal neuronal injury with irreversible tissue loss. While it has been estimated that vascular cause of dementia constitutes up to 20% of cases in the elderly, the inconspicuous nature of the symptoms and the common coexistence of vascular pathology with other neurodegenerative processes, would suggest that the true contribution of vascular mechanisms to dementia is likely to be significantly higher [2,3].…”