MR IMAGING IN A CASE OF HALLERVORDEN-SPATZ DISEASE

Background. The manifestations of the Haliervorden-Spatz disease (HSD) usually appear during childhood or in adults. They are not specific and magnetic resonance imaging (MRI) has improved its diagnosis. Case report. A girl developed progressive motor difficulties, dystony, rigidity, spasticity and mental deterioration, beginning at the age of 18 months. Examination at the age of 13 years showed pigmentary degeneration of the retina and acanthocytosis. The CT scan showed symmetrical calcifications in both globus pallidus. The MRI showed heterogeneity of the globus pallidus, decreased signal intensity of magnetic resonance T2-weighted images with an aspect of ''tiger eye''. Conclusion. The MRI show peculiar signs that may help in the diagnosis of HSD, and eventually in genetic counselling.