CADASIL in a family from north-west India

Area of Science:

• Neurology
• Genetics
• Vascular Diseases

Background:

• Recurrent familial stroke presents a diagnostic challenge.
• Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic vasculopathy.
• Early diagnosis is crucial for managing cerebrovascular risks.

Observation:

• Two siblings presented with a history of recurrent strokes.
• Neuroimaging showed diffuse white matter and basal ganglia hyperintensities in the younger sibling.
• Skin biopsy revealed characteristic PAS-positive granules and thickened dermal vessels.

Findings:

• The clinical and imaging findings were highly suggestive of CADASIL.
• Skin biopsy confirmed the diagnosis of CADASIL.
• This case highlights the genetic basis of familial stroke.

Implications:

• Understanding CADASIL's genetic underpinnings can improve early detection.
• This case emphasizes the importance of neuroimaging and skin biopsy in diagnosing rare vasculopathies.
• Further research into CADASIL pathogenesis may reveal novel therapeutic targets.