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CADASIL in a family from north-west India

A Panagariya1, Bhawana Sharma, Shubhakaran

  • 1Department of Neurology; SMS Medical College and Hospital, Jaipur 302 004, Rajasthan.

The Journal of the Association of Physicians of India
|January 14, 2005
PubMed

Insights

This study reports a family with recurrent strokes, identifying cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) in one sibling. Skin biopsy confirmed the diagnosis, highlighting a rare genetic cause of familial stroke.

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.

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