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Comparative neuroimaging with pathologic correlates in Alexander's disease.

D C Hess1, A Q Fischer, F Yaghmai

  • 1Department of Neurology, Medical College of Georgia, Augusta 30912.

Journal of Child Neurology
|July 1, 1990
PubMed
Summary
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This study details a case of Alexander's disease, highlighting unique cranial ultrasound and MRI findings. These imaging techniques can aid in diagnosing this rare pediatric neurologic disorder.

Area of Science:

  • Neuroscience
  • Pediatric Neurology
  • Radiology

Background:

  • Alexander's disease is a rare, progressive, and fatal genetic leukoencephalopathy.
  • Diagnosis often relies on clinical presentation and genetic testing, with imaging playing a supportive role.

Observation:

  • Serial cranial ultrasound revealed enlarging subependymal cysts and evolving periventricular hyperechogenicity.
  • Computed tomography (CT) demonstrated low attenuation in the periventricular white matter and centrum semiovale.
  • Magnetic resonance imaging (MRI) showed diffuse, confluent high signal predominantly in the frontal white matter.

Findings:

  • The case illustrates distinct imaging patterns associated with Alexander's disease.
  • Cranial ultrasound and MRI provided valuable diagnostic information.

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  • Correlation of imaging findings with pathological confirmation is crucial.

    • Implications:

    • Cranial ultrasound and MRI are valuable tools for diagnosing Alexander's disease in children.
    • These modalities can assist in evaluating pediatric patients with suspected degenerative neurologic disease and megalencephaly.
    • Early and accurate diagnosis through advanced imaging can facilitate timely management and genetic counseling.