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Aspartylglucosaminuria: radiologic course of the disease with histopathologic correlation
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Oncology, Radiology and Clinical Immunology. (RAD)
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1997 (English)In: Journal of Child Neurology, ISSN 0883-0738, E-ISSN 1708-8283, Vol. 12, no 6, 369-75 p.Article in journal (Refereed) Published
Abstract [en]

Twelve living patients (aged 19 months to 32 years) with aspartylglucosaminuria were examined by magnetic resonance imaging (MRI), and the magnetic resonance (MR) images of 16 health volunteers (aged 4 to 32 years) were used as controls. One patient was examined twice. Postmortem MRI and histopathologic analysis were done on the brains of four additional adult patients. Signal intensities determined quantitatively on T2-weighted images differed significantly between patients and controls, being higher from the white matter (P < .0002) and lower from the thalami (P < .03) in the patients. The generally increased signal intensity of the white matter was most obvious in the young patients, with many focal areas of very high signal intensity in the subcortical white matter. The subcortical white matter showed a somewhat increased signal intensity even at the age of 32 years. In two of the four postmortem MR images, the distinction between the gray and white matter was still poor. At histopathologic analysis, the basic cortical cytoarchitecture was generally preserved but most neurons contained vacuoles, which were also found in the neurons of the deep gray matter. In two of the four autopsy cases the white matter showed diffuse pallor of myelin staining and some gliosis. Thus aspartylglucosaminuria is primarily a gray-matter disease also affecting white matter by delaying myelination.

Place, publisher, year, edition, pages
1997. Vol. 12, no 6, 369-75 p.
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Medical and Health Sciences
Identifiers
URN: urn:nbn:se:uu:diva-57599DOI: 10.1177/088307389701200606PubMedID: 9309520OAI: oai:DiVA.org:uu-57599DiVA: diva2:85508
Available from: 2008-10-17 Created: 2008-10-17 Last updated: 2017-12-04Bibliographically approved

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