Follow-up magnetic resonance imaging in Hallervorden-Spatz disease

Clin Neurol Neurosurg. 1992:94 Suppl:S57-60. doi: 10.1016/0303-8467(92)90023-v.

Abstract

Bilateral high signal emitting areas in the globus pallidus surrounded by low signal emitting areas have been described as a typical MRI finding in Hallervorden-Spatz disease (HSD). We made a diagnosis of HSD in an 11-year-old girl with progressive dystonia of 4 years duration who showed these typical MRI abnormalities. An initial MRI at the age of 9 was normal. Pathological confirmation of these typical MRI findings has not yet been described, but earlier reports as well as our case suggest that MRI may be helpful in making a clinical diagnosis of HSD. This case further shows that MRI may be normal in an early stage of the disease.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Child
  • Chromosome Aberrations / diagnosis*
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Female
  • Follow-Up Studies
  • Genes, Recessive
  • Globus Pallidus / pathology
  • Humans
  • Magnetic Resonance Imaging*
  • Nerve Degeneration / genetics
  • Nerve Degeneration / physiology*
  • Neurologic Examination
  • Pantothenate Kinase-Associated Neurodegeneration / diagnosis*
  • Pantothenate Kinase-Associated Neurodegeneration / genetics