Diagnosis of Hallervorden-Spatz disease

Abstract

Objective: To explore the definite diagnosis of Hallervorden-Spatz disease (HSD) in two patients. Methods: Two cases of the adult type of HSD diagnosed by clinical, MRI and pathologic findings were analysed. The patients had been diagnosed as Parkinson disease (PD). Results: There were the following features on HSD as compared with PD: (1) The rigidity was involved in all the extremities simultaneously with the onset, especially on the lower extremities. (2) The rigidity was more seriously than the tremor. (3) Other involuntary movements or signs of pyramidal signs were also impaired. (4) Mental deterioration was early and severe. (5) There were poor effects about the treatments with madopur. (6) The course of the illness proceeded rapidly. (7) MRI showed macula areas of decreased signal intensity in T1 and T2- weighted images in the globus pallidus and substantia nigra or (and) widely distributed throughout the cerebrum, especialy the 'eye of the tiger' sign appeared. Conclusion: The antemortem diagnosis of HSD might be possible on the detailed basis of clinical manifestations and MRI features, but other neurodegeneration disorders should be ruled out.