Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leucoencephalopathy (CADASIL)
CADASIL is a rare genetic disease caused by mutations in the NOTCH3 gene that affects small blood vessels in the brain, reducing blood flow and leading to ischaemic lesions (damage to the brain tissue). This case study highlights the diagnostic challenges posed by overlapping features between CADASIL and demyelinating diseases like multiple sclerosis. The ischaemic events (reduced blood flow) lead to focal neurological deficits which are problems with nerve, spinal cord, or brain function that cause several different symptoms depending on the area affected. Several conditions can have similar symptom and radiological presentations which can lead to difficulty in proper diagnosis. The case describes a 46-year-old man who presented with slurred speech, a drooping face, a history of balance issues and visual impairments. His brain MRI showed typical white matter abnormalities typical of CADASIL, and genetic testing confirmed the diagnosis. This case suggests that ischemic stroke episodes in young patients may be suggestive of CADASIL. Though there are currently limited treatments, early diagnosis can lead to prevention medication to help reduce risks of stroke, genetic counselling, and earlier referral to a young-onset dementia clinic that can support the individual.