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

J Inherit Metab Dis. 2015 Sep;38(5):983-4. doi: 10.1007/s10545-015-9812-1. Epub 2015 Feb 3.


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.

Publication types

  • Case Reports

MeSH terms

  • Amidohydrolases / genetics
  • Aspartic Acid / analogs & derivatives
  • Aspartic Acid / metabolism
  • Brain / pathology
  • Brain Diseases / diagnosis*
  • Brain Diseases / etiology
  • Brain Diseases / pathology
  • Canavan Disease / complications
  • Canavan Disease / diagnosis*
  • Canavan Disease / pathology
  • Central Nervous System Cysts / complications
  • Central Nervous System Cysts / diagnosis*
  • Central Nervous System Cysts / pathology
  • Child, Preschool
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Skull / pathology*


  • Aspartic Acid
  • N-acetylaspartate
  • Amidohydrolases
  • aspartoacylase