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Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

Zeljko Krsmanović1, Evica Dincić, Smiljana Kostić

  • 1Military Medical Academy, Neurology Clinic, Belgrade, Serbia. zkrsmanovic@sezampro.rs

Vojnosanitetski Pregled
|July 12, 2011
PubMed

Insights

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can be diagnosed using clinical signs, MRI, and skin biopsy showing granular osmiophilic material (GOM). This confirms CADASIL, aiding in precise patient management.

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic disorder affecting small blood vessels, leading to strokes and dementia.
  • Accurate diagnosis is crucial as it impacts patient outcomes.
  • CADASIL is linked to Notch 3 gene mutations, causing characteristic MRI findings and pathological changes.

Observation:

  • Two young adults presented with ischemic strokes, cognitive decline, and psychiatric symptoms.
  • Cranial MRI revealed patterns suggestive of CADASIL.
  • Skin biopsies showed granular osmiophilic material (GOM) in arterioles, a hallmark of the disease.

Findings:

  • The presence of GOM in skin biopsies is 100% specific for CADASIL.
  • Combined clinical presentation, MRI findings, and ultrastructural GOM confirmation establish the diagnosis.
  • Genetic testing for Notch 3 mutations was not performed, as GOM presence is definitive.

Implications:

  • This diagnostic approach simplifies CADASIL identification, especially when genetic testing is not pursued.
  • Early and accurate diagnosis of CADASIL enables timely intervention and management.
  • Understanding CADASIL's pathology is key to developing targeted therapies for cerebrovascular diseases.
Abstract

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