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Longitudinal In Vivo Imaging of the Cerebrovasculature: Relevance to CNS Diseases
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CADASIL disease, an inherited slowly progressive vascular dementia: case report with radiologic and electron

Sania Shuja1, Justin Lindquist, Kevin P Lee

  • 1Department of Pathology, University of Florida, College of Medicine, Jacksonville Campus, Jacksonville, FL 32209, USA. sania.shuja@jax.ufl.edu

Journal of Stroke and Cerebrovascular Diseases : the Official Journal of National Stroke Association
|November 11, 2009
PubMed

Insights

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic arteriopathy causing vascular dementia. Diagnosis was confirmed via skin biopsy showing characteristic granular osmophilic material deposits.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Biology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic arteriopathy.
  • It is a leading cause of inherited vascular dementia.
  • Early diagnosis is crucial for management.

Observation:

  • A 50-year-old man presented with a history of migraines, left-sided weakness, stroke, and progressive dementia.
  • MRI revealed diffuse leukoencephalopathy, particularly in the anterior temporal lobes.
  • A positive family history and clinical suspicion prompted a skin biopsy.

Findings:

  • Electron microscopy of the skin biopsy demonstrated granular osmophilic material deposits in dermal arterioles.
  • These deposits are pathognomonic for CADASIL.
  • The findings confirmed the diagnosis in this patient.

Implications:

  • Skin biopsy is a valuable diagnostic tool for CADASIL, even in cases with subtle or absent neurological symptoms.
  • Understanding diagnostic challenges, like potential false-negative skin biopsies, is important.
  • This case highlights the importance of considering CADASIL in patients with unexplained vascular dementia and relevant family history.

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