CADASIL vs. Multiple Sclerosis: Is It Misdiagnosis or Concomitant? A Case Series

Area of Science:

• Neurology
• Genetics
• Hereditary Diseases

Background:

• Cerebral autosomal dominant arteriopathy and subcortical infarct leukoencephalopathy (CADASIL) is a hereditary stroke disorder linked to NOTCH3 gene mutations.
• CADASIL is occasionally misdiagnosed as multiple sclerosis (MS) due to similar clinical presentations.

Observation:

• Three cases are presented where patients initially diagnosed with MS were later re-diagnosed with CADASIL after genetic testing.
• Symptoms included migraines, visual disturbances, vertigo, numbness, and cognitive decline, with MRI findings sometimes resembling MS.
• One case presented with myelitis, an unusual feature for CADASIL, suggesting potential concurrent autoimmune processes.

Findings:

• The NOTCH3 gene mutation is the underlying cause of CADASIL.
• Overlapping symptoms between CADASIL and MS can lead to diagnostic delays and inappropriate treatments.
• The potential role of autoimmune mechanisms in CADASIL pathogenesis warrants further investigation.

Implications:

• Increased awareness of CADASIL's varied presentation is essential for clinicians to avoid misdiagnosis.
• Accurate diagnosis of CADASIL is critical for implementing appropriate management strategies and preventing complications associated with MS treatments.
• Further research into the interplay between NOTCH3 mutations and autoimmune responses may reveal new therapeutic targets.