IN-VIVO DIAGNOSIS OF HALLERVORDEN-SPATZ DISEASE

The authors present the MRI findings of two children with insidious wa lking difficulties, signs of corticospinal tract involvement, and sign s and symptoms of extrapyramidal dysfunction such as rigidity and gene ralized dystonia, the latter with predominance of oromandibular involv ement. In one child, MRI revealed prominent hypo-intensity in the glob us pallidus and in the substantia nigra on T-2-weighted spin echo imag es, consistent with iron deposition and thus with previous postmortem findings of Hallervorden-Spatz disease. In the other case, the hypo-in tensity was restricted to the globus pallidus, in which a small area o f hyperintensity in its internal segment was demonstrated-the so calle d 'eye-of-the-tiger' sign. The authors propose that a combination of p reviously mentioned neurological signs with these specific MRI finding s is highly suggestive of an in vivo diagnosis of the late infantile t ype of HSD.