Follow-up magnetic resonance imaging in Hallervorden-Spatz disease.
Bilateral high signal emitting areas in the globus pallidus surrounded by low signal emitting areas have been described as a typical MRI finding in Hallervorden-Spatz disease (HSD). We made a diagnosis of HSD in an 11-year-old girl with progressive dystonia of 4 years duration who showed these typical MRI abnormalities. An initial MRI at the age of 9 was normal. Pathological confirmation of these typical MRI findings has not yet been described, but earlier reports as well as our case suggest that MRI may be helpful in making a clinical diagnosis of HSD. This case further shows that MRI may be normal in an early stage of the disease.
Brouwer
O F
OF
Department of Neurology, University Hospital, Leiden, The Netherlands.
Laboyrie
P M
PM
Peters
A C
AC
Vielvoye
G J
GJ
D002648:Child; D002869:Chromosome Aberrations / Q000175:diagnosis* / Q000235:genetics; D025063:Chromosome Disorders; D005260:Female; D005500:Follow-Up Studies; D005808:Genes, Recessive; D005917:Globus Pallidus / Q000473:pathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D009410:Nerve Degeneration / Q000235:genetics / Q000502:physiology*; D009460:Neurologic Examination; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis* / Q000235:genetics