[A case of symptomatic cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

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Updated: Oct 10, 2026

Isolation and Cannulation of Cerebral Parenchymal Arterioles
09:49

Isolation and Cannulation of Cerebral Parenchymal Arterioles

Published on: May 23, 2016

A Nakamizo1, H Koga, E Uyama

  • 1Department of Neurosurgery, Graduate School of Medical Sciences, Kyushu University, Kitakyushu, Japan.

Fukuoka Igaku Zasshi = Hukuoka Acta Medica
|November 18, 2000
PubMed

Insights

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare genetic condition. This case highlights characteristic MRI findings in a 42-year-old woman diagnosed with CADASIL.

Area of Science:

  • Neurology
  • Genetics
  • Neuroimaging

Background:

  • Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is a hereditary cerebrovascular disorder.
  • It is characterized by progressive neurological dysfunction, cognitive decline, and stroke.
  • Genetic mutations in NOTCH3 are the primary cause.

Observation:

  • A 42-year-old woman presented with symptoms consistent with CADASIL.
  • Diagnosis was established based on clinical presentation, family history, neurological examination, and neuroimaging.
  • Magnetic resonance imaging (MRI) revealed characteristic multiple lesions in the cerebrum and brain stem.

Findings:

  • The patient's MRI findings were typical for CADASIL.
  • Multiple subcortical infarcts and leukoencephalopathy were evident on imaging.
  • The pattern of brain lesions, including the brain stem, strongly supported the diagnosis.

Implications:

  • This case underscores the importance of neuroimaging in diagnosing CADASIL.
  • Early diagnosis facilitates timely management and genetic counseling.
  • Understanding characteristic imaging patterns aids in differentiating CADASIL from other leukoencephalopathies.

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