Brain imaging in Kufs disease type B: case reports

BMC Neurol. 2015 Jul 4;15:102. doi: 10.1186/s12883-015-0357-6.


Background: The clinical traits of Kufs disease (KD) type B (CLN13), an adult-onset neuronal ceroid lipofuscinosis (NCL), are well established according to the neurological features of the cases reported with mutations in CTSF. The neuroradiological characteristics of this uncommon disease have not yet been outlined.

Case presentation: We hereby report the brain MRI features in two Caucasian women who carried homozygous mutations in CTSF, providing a short review of the neuroradiological findings of other common NCLs. Together with a brain volume reduction, the two cases showed white matter hyperintensities and thinning of the corpus callosum at onset of the cognitive decline.

Conclusion: White matter hyperintensities associated with volume reduction of the corpus callosum may be present at the beginning of the behavioural changes in CLN13 and represent further clues for searching mutations in CTSF.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Brain / pathology*
  • Cognition Disorders / etiology*
  • Corpus Callosum / pathology
  • Female
  • Humans
  • Magnetic Resonance Imaging*
  • Middle Aged
  • Mutation
  • Neuronal Ceroid-Lipofuscinoses / physiopathology*