Background & Significance:
@EN Hallervorden-Spatz disease (HSD) is a rare neurologic disorder characterized by progressive dystonia, retinal degeneration, pyramidal sing, and mental deterioration. The neuropathological findings include preferential deposition of iron
within
the
extrapyramidal nuclei, including globus pallidus, substantia nigra, and red nuclei. The final diagnosis depends on the typical pathologic findings. MRI brain imaging study commonly shows so-called eye-of-the-tiger' in the globus pallidus. However
1H'MRS
findings of HSD have not been reported. We experienced a case with clinically suspicious HSD whose diagnosis was further supported by 1H-MRS.
@ES Case:
@EN A forty four year-old man presented with slowly progressive dystonia for six years. He had been well until age of thirty eight, when he noticed clumsy hand-writing. Three years later, he developed difficulty in chewing. Clumsiness of his
hands
and
arm movements progressed to the point of difficulty in using spoon and chopsticks. While walking, arm swing was decreased and both arms and neck took more dystonic posture. Brain MRI (T2WI) showed symmetric high signal intensity lesions in the
globus
pallidus, surrounded by a peripheral zone of exaggerated low signal. On 1H-MRS of basal ganglia, although choline, creatine and N-acetyl-aspartate (NAA) peaks were detected, marked noise probably due to paramagnetic substance (iron), made
quantitative
analysis difficult.
@ES Conclusion:
@EN 1H-MRS of HSD is characterized by 'noise', which may be sug gestive of HSD.
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