The cases of two sisters with late infantile Hallervorden-Spatz disease are reported, one of whom has died. Autopsy of the deceased patient showed typical pallidal lesions; such as axonal spheroids and iron deposits, without involvement of the Substantia nigra. Ultrastructural examination revealed that pallidal axonal enlargements consisted of collection of mitochondria, dense bodies, vesicles and amorphous material. In the living patient, brain MRI showed the classical ''tiger's eye'' appearance of the globus pallidus. Retinitis pigmentosa, acanthocytosis and slight neuromuscular involvement with an increase in serum creatine kinase were observed in both subjects. The appearance of the globus pallidus on MRI was in line with the pathological abnormalities. Ultrastructural differences between the principal disorders characterized by neuroaxonal dystrophy are compared and the clinical spectrum and similarities of the different forms of neuroacanthocytosis analysed.
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