[Hallervorden-Spatz disease]

Abstract

Hallervorden-Spatz disease is an autosomal recessive disorder which usually begins in childhood, progresses irreversibly and leads to death in early adulthood. The main manifestations are extrapyramidal signs, such as, dystonia and rigidity, pyramidal signs and mental deterioration. Pathological changes are found mainly in globus pallidus. They are characterized by (1) pigmentation with iron, and (2) numerous spheroids which represent abnormal axonal swelling. The cause of the disease is not clear but excessive iron storage may contribute to pathogenesis. The patients are treated symptomatically. The definite diagnosis is difficult and is made post mortem. Recently, however, characteristic MRI findings has been reported, which may be useful for the diagnosis during life.