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Aspartylglucosaminuria: Radiologic Course of the Disease With Histopathologic Correlation

Department of Pediatric Neurology Children's Hospital, University of Helsinki, Department of Radiology Helsinki University Central Hospital

Raili Raininko, MD, PhD

Department of Radiology University of Uppsala

Matti Haltia, MD, PhD

Department of Pathology University of Helsinki

Leena Lauronen, BM

Department of Radiology Helsinki University Central Hospital

Sanna-Leena Vanhanen, MD

Department of Pediatric Neurology Children's Hospital, University of Helsinki

Oili Salonen, MD, PhD

Department of Radiology Helsinki University Central Hospital

Hannu J. Aronen, MD, PhD

Department of Radiology Helsinki University Central Hospital

Kari Wirtavuori, MD

Department of Anesthesiology Children's Hospital, University of Helsinki, Helsinki, Finland

Pirkko Santavuori, MD, PhD

Department of Pediatric Neurology Children's Hospital, University of Helsinki

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 healthy 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. (J Child Neurol 1997;12:369-375).

Journal of Child Neurology, Vol. 12, No. 6, 369-375 (1997)
DOI: 10.1177/088307389701200606


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