Computed tomography in Hallervorden-Spatz disease

We report computed tomography (CT) findings of an autopsy-proven case of late-infantile Hallervorden-Spatz disease (HSD). The patient's symptoms started in preschool age with dystonic posture, leading shortly to complete loss of verbal communication and ambulation with marked torsion dystonia. She died aged 23 years. Cranial CT, performed at the age of 18 years, showed moderate infratentorial atrophy, but cortical cerebral atrophy, ventricular enlargement and caudate atrophy were all absent; there were symmetrical areas of increased density in the globus pallidus, and ironstaining pigment deposits at this site were confirmed post mortem. In the appropriate clinical setting such CT findings may be diagnostically helpful in the late-infantile form of HSD. However, experience with CT as well as with magnetic resonance imaging in HSD is still very limited.