Proton Nuclear MR Spectroscopy (H-MRS) in Adult Onset Hallervorden-Spatz Disease

ABSTRACT

Background & Significance: Hallervorden-Spatz disease (HSD) is a rare neurologic disorder characterized by progressive dystonia, retinal degeneration, pyramidal sign, 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. Case 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 (T2Wl) 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. Conclusion: 1H-MRS of HSD is characterized by "noise", which may be suggestive of HSD.