IJCNMH ARCpublishing

Issue: Issue 3 (2016) – Supplement 3

Case Report

White matter lesions mimic multiple sclerosis in a minimally symptomatic CADASIL

Miguel Grilo and Joana Guimarães
Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a heritable small-vessel disease of the brain characterized by subcortical ischaemic events, cognitive impairment and leukoencephalopathy. The clinical presentation of the disease varies substantially between and within families and might be modulated by gender and common vascular risk factors. 
Case Report: We present the clinical case of a 57-year-old patient initially misdiagnosed with multiple sclerosis. The case illustrates how important it is to re-evaluate family history and imaging features in clinically non-progressive patients and demonstrates the substantial diversity of CADASIL within family members. In this setting, the approach of minimally symptomatic patients with white matter changes can present some diagnostic challenges.
Discussion: This case illustrates the diagnostic challenge of minimally symptomatic CADASIL. The need to reassess the diagnosis in such patients is of uttermost importance, since it has implications for disease management and genetic counseling.

Keywords: CADASIL, Multiple sclerosis, White matter lesions.

Special Issue on Inflammatory Demyelinating Diseases of the Central Nervous System

International Journal of Clinical Neurosciences and Mental Health 2016; 3(Suppl. 3):S10 
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