CADASIL can mimic multiple sclerosis.

Area of Science:

• Neurology
• Genetics
• Neuroimaging

Background:

• Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic condition that affects blood vessels in the brain.
• CADASIL shares some clinical and radiological features with multiple sclerosis (MS), leading to potential diagnostic confusion.

Observation:

• A patient presented with symptoms suggestive of MS, including white matter changes on MRI, and had a father diagnosed with MS.
• Initial investigations focused on MS, but subsequent genetic testing revealed a mutation in the Notch3 gene, confirming a diagnosis of CADASIL.

Findings:

• The patient's diagnosis of CADASIL was confirmed through genetic testing, identifying a specific mutation (arginine to cysteine at amino acid 90) in the Notch3 gene.
• CADASIL is characterized by migraine headaches, progressive cerebrovascular disease in mid-adulthood, diffuse white matter changes, and dementia.

Implications:

• This case underscores the importance of considering CADASIL in the differential diagnosis of suspected MS, especially in patients with a family history or specific clinical features.
• Accurate diagnosis through genetic testing is crucial for appropriate management and genetic counseling for CADASIL.
• Neuroimaging findings in CADASIL can overlap with other neurological disorders, necessitating a comprehensive diagnostic approach.