Early clinical and imaging (high-field MRI) diagnosis of Hallervorden-Spatz disease.
In a 10-year-old girl, with progressive motor disturbance since the age of seven years and dominant pyramidal signs, MRI revealed marked overall low signal from the globus pallidus on each side, with central zones of high signal. There was also strikingly low signal in the zona reticularis of the substantia nigra, indicative of Hallervorden-Spatz disease (HSD).
Feliciani
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M
Second Service of Neuroradiology, University La Sapienza, Rome, Italy.
Curatolo
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P
D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004292:Dominance, Cerebral / Q000502:physiology; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D005917:Globus Pallidus / Q000473:pathology*; D006801:Humans; D007501:Iron / Q000378:metabolism*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D009460:Neurologic Examination; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis* / Q000235:genetics
D007501:Iron