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Updated: Apr 17, 2026

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
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Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease

Anne Drenckhahn1, Markus Schuelke, Ellen Knierim

  • 1Department of Neuropediatrics and the NeuroCure Clinical Research Center, Charité-Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.

Journal of Inherited Metabolic Disease
|February 4, 2015
PubMed

Insights

Canavan disease, a genetic disorder, causes myelin degeneration. This case highlights macroscopic spongy degeneration, appearing as periventricular cysts on MRI, aiding diagnosis.

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatric Neurology

Background:

  • Canavan disease is a rare genetic leukodystrophy.
  • It results from a deficiency in the ASPA gene, leading to N-acetylaspartic acid accumulation.
  • This accumulation causes progressive demyelination and neurological deficits.

Observation:

  • A 3-year-old boy presented with psychomotor delay, spasticity, visual loss, seizures, and macrocephaly.
  • Cranial MRI revealed leukodystrophy with multicystic changes.
  • Elevated N-acetylaspartic acid in urine suggested Canavan disease.

Findings:

  • ASPA gene mutation analysis confirmed the diagnosis of Canavan disease.
  • The study observed macroscopic spongy degeneration in the form of multiple beaded periventricular cysts on MRI.
  • This finding is typically seen only histologically, offering a novel diagnostic marker.

Implications:

  • This case expands the understanding of Canavan disease's radiological presentation.
  • Macroscopic periventricular cysts on MRI can be an indicator of spongy degeneration in Canavan disease.
  • Early and accurate diagnosis through advanced imaging and genetic testing is crucial for managing pediatric leukodystrophies.

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