Hallervorden-Spatz disease: clinical and MRI study of 11 cases diagnosed in life

J Neurol. 1992 Oct;239(8):417-25. doi: 10.1007/BF00856805.

Abstract

The diagnosis of Hallervorden-Spatz disease (HSD) has usually been made post mortem, although the recent description of characteristic abnormalities in the globus pallidus has suggested the possibility of an in vivo diagnosis. We present the clinical histories, neurological features and MRI findings of 11 patients, diagnosed as having HSD. Generalized dystonia with predominance of oromandibular involvement, behavioural changes followed by dementia and retinal degeneration were present in all the patients. MRI pallidal abnormalities consisted of decreased signal intensity in T2-weighted images, compatible with iron deposits, and of a small area of hyperintensity in its internal segment ("eye of the tiger" sign). We propose that the combination of these neurological signs with these MRI findings could be considered as highly suggestive of a diagnosis of HSD in living patients.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Dystonia / diagnosis
  • Female
  • Follow-Up Studies
  • Globus Pallidus / diagnostic imaging
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Neuropsychological Tests
  • Pantothenate Kinase-Associated Neurodegeneration / diagnosis*
  • Pantothenate Kinase-Associated Neurodegeneration / diagnostic imaging
  • Retinal Degeneration / diagnosis
  • Tomography, X-Ray Computed