MRI of Hallervorden-Spatz disease

Two male and two female patients, aged between 10 and 28 years (mean =16 years) with clinical features of Hallervorden-Spatz disease (HSD) were submitted to MRI examination with a 1.5 T system. T1- and T2-weighted spin-echo sequences were obtained. Two patients received paramagnetic contrast medium. All four cases had low signal in the globus pallidus. Three also had central high signal (target configuration). In one there was also low signal in the substantia nigra. There was no enhancement with contrast medium. The diagnosis of HSD was supported by the MRI study in all four cases. This method proved to be useful for an “in vivo” diagnosis of HSD, making MRI the procedure of choice for confirmation in patients with clinical findings of Hallervorden-Spatz disease.