Hallervorden-Spatz syndrome restricted to the pallidal nuclei

The case history is presented of a man who died at the age of 38 years and had been suffering from severe torsion dystonia and a hypokinetic-rigid motor disturbance since the age of 10. The pathological findings were isolated pallidal degeneration with demyelination and moderate neuronal loss, iron pigment accumulation and spheroid bodies in both pallidal nuclei. In addition the zona reticularis of the substantia nigra was hypoplastic and not affected. The red nucleus, the dentate nucleus and the zona reticularis of the substantia nigra showed iron depigmentation. The rare condition of non-familial Hallervorden-Spatz syndrome, without involvement of the zona reticularis and the cerebral cortex, was considered to be the diagnosis.