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Aspartylglucosaminuria: radiologic course of the disease with histopathologic correlation
T Autti1, R Raininko, M Haltia
1Department of Pediatric Neurology, Children's Hospital, University of Helsinki, Finland.
Abstract:
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.
Insights
Aspartylglucosaminuria (AGU) is a gray matter disease that also affects white matter, delaying myelination. MRI and histopathology reveal distinct signal intensities and neuronal vacuolation in AGU patients.
Area of Science:
- Neurology
- Radiology
- Medical Genetics
Background:
- Aspartylglucosaminuria (AGU) is a rare lysosomal storage disease.
- It is characterized by the accumulation of undegraded glycoproteins.
Purpose of the Study:
- To investigate the in vivo and postmortem brain changes in aspartylglucosaminuria using magnetic resonance imaging (MRI).
- To correlate MRI findings with histopathologic alterations.
Main Methods:
- MRI (T2-weighted images) was performed on 12 living patients and 16 healthy controls.
- Postmortem MRI and histopathologic analysis were conducted on four additional adult patients.
Main Results:
- Patients showed significantly higher white matter signal intensity (P < .0002) and lower thalamic signal intensity (P < .03) compared to controls.
- Increased white matter signal intensity, particularly in subcortical regions, was evident even in adult patients.
- Histopathology revealed neuronal vacuolation and, in some cases, delayed myelination and gliosis in the white matter.
Conclusions:
- Aspartylglucosaminuria is primarily a gray matter disease with secondary white matter involvement.
- Delayed myelination is a key feature of white matter pathology in AGU.
- MRI can detect characteristic brain changes associated with AGU.