Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL)
https://www.cureus.com/articles/524231
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare inherited neurological disorder affecting the brain’s small blood vessels. It is caused by changes in the NOTCH3 gene, which can damage blood vessel walls and reduce blood flow to brain tissue. Symptoms may include migraine, strokes, transient ischaemic attacks (temporary stroke-like episodes) and progressive cognitive difficulties. CADASIL typically develops during adulthood, but diagnosis can be challenging when symptoms appear later in life. This case report describes a 60-year-old Singaporean Chinese woman investigated after intermittent migraines without aura led to an unexpected finding on magnetic resonance imaging (MRI), a scan that produces detailed pictures of the brain. She had no previous history of stroke or cognitive difficulties, and her neurological examination was normal. However, further MRI scans revealed widespread changes in the brain’s white matter, including areas around the external capsules and anterior temporal lobes, as well as a small, old infarct (an area of tissue damage caused by reduced blood supply) in the corpus callosum. She later experienced a transient ischaemic attack, causing temporary slurred speech. Genetic testing confirmed a disease-causing NOTCH3 variant associated with CADASIL, and her brother’s history of dementia also raised the possibility of an inherited family risk. This case highlights that CADASIL can occur later in life without typical early symptoms. Recognising characteristic MRI changes can help clinicians identify an underlying genetic cause. Although a single case cannot establish how frequently late-onset CADASIL occurs, it demonstrates the value of combining clinical assessment, brain imaging and genetic testing. Accurate diagnosis supports appropriate management, genetic counselling and family screening, helping relatives understand their potential inherited risk and improving recognition of this rare condition.