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Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease

  • Images in Metabolic Medicine
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Journal of Inherited Metabolic Disease

Abstract

A 3-year-old boy was admitted with psychomotor delay, spasticity, progressive visual loss, nystagmus, macrocephaly, and epileptic seizures for diagnostics. Cranial magnetic resonance imaging (MRI) revealed leukodystrophy and multicystic changes. Urine excretion of N-acetylaspartic acid was grossly increased, suggesting Canavan disease. Mutation screening of the ASPA gene confirmed this diagnosis. The underlying enzymatic defect causes accumulation of N-acetylaspartic acid and subsequent progressive myelin degeneration with characteristic spongy degeneration of the subcortical white matter, normally only seen histologically. We describe this case to show that spongy degeneration in Canavan disease may also be present macroscopically in the form of multiple beaded periventricular cysts on cranial MRI.

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Compliance with Ethics Guidelines

All authors confirm the absence of previous similar or simultaneous publications, their inspection of the manuscript, their substantial contribution to the work, and their agreement to submission.

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None declared.

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Authors and Affiliations

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

    Anne Drenckhahn, Markus Schuelke & Ellen Knierim

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  1. Anne Drenckhahn
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  2. Markus Schuelke
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  3. Ellen Knierim
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Correspondence to Ellen Knierim.

Additional information

Communicated by: Nicole Wolf

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Drenckhahn, A., Schuelke, M. & Knierim, E. Leukodystrophy with multiple beaded periventricular cysts: unusual cranial MRI results in Canavan disease. J Inherit Metab Dis 38, 983–984 (2015). https://doi.org/10.1007/s10545-015-9812-1

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  • DOI: https://doi.org/10.1007/s10545-015-9812-1

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