Familial leukoencephalopathy with slowly progressive dystonia and ataxia

Eur J Paediatr Neurol. 2009 Nov;13(6):530-3. doi: 10.1016/j.ejpn.2008.11.004. Epub 2008 Dec 13.

Abstract

We describe two siblings with childhood onset, slowly progressive generalized dystonia and cerebellar signs. Brain neuroimaging revealed white matter abnormalities compatible with a neuronal degenerative disorder. An extensive evaluation for mitochondrial, metabolic, autoimmune or other known neurodegenerative disorders did not reveal the etiology of the disease. During a three-year follow-up other neurological signs appeared, but progression was very slow. We believe that our patients have a new type of a leukoencephalopathy with slowly progressive dystonia and cerebellar signs.

Publication types

  • Case Reports

MeSH terms

  • Ataxia / complications*
  • Ataxia / diagnosis
  • Ataxia / diagnostic imaging
  • Brain / pathology
  • Child
  • Child, Preschool
  • Dystonic Disorders / complications*
  • Dystonic Disorders / diagnostic imaging
  • Family Health*
  • Humans
  • Leukoencephalopathies / complications*
  • Leukoencephalopathies / diagnostic imaging
  • Magnetic Resonance Imaging / methods
  • Male
  • Radiography