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Research ArticlePediatrics

Susceptibility-Weighted Imaging Findings in Aspartylglucosaminuria

A. Tokola, M. Laine, R. Tikkanen and T. Autti
American Journal of Neuroradiology November 2019, 40 (11) 1850-1854; DOI: https://doi.org/10.3174/ajnr.A6288
A. Tokola
aFrom the HUS Medical Imaging Center, Radiology (A.T., T.A.), University of Helsinki and Helsinki University Hospital, Helsinki, Finland
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M. Laine
bDepartment of Child Neurology (M.L.), Helsinki University Hospital, Helsinki, Finland
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R. Tikkanen
cInstitute of Biochemistry, Medical Faculty (R.T.), University of Giessen, Giessen, Germany
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T. Autti
aFrom the HUS Medical Imaging Center, Radiology (A.T., T.A.), University of Helsinki and Helsinki University Hospital, Helsinki, Finland
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    Fig 1.

    Susceptibility-weighted axial images at the level of basal ganglia and thalami. A, A healthy control, an 11-year-old girl with normal findings. B–F, Five patients with AGU at different ages (7.9, 9.5, 11.4, 13.8, and 14.2 years) show a strikingly similar distribution of hypointensity in deep gray matter structures, with a maximum-intensity decrease in the pulvinar nuclei. Patchy decrease is also noted in the medial and anterior thalamic nuclei. Some signal intensity decrease is also seen in the globi pallidi.

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    Fig 2.

    On the left, susceptibility-weighted axial image and magnification of the thalami in a 13-year-old boy with AGU showing the distribution of decreased signal intensity in the thalamic nuclei. The most evident decrease is seen in the pulvinar nuclei, but a patchy signal intensity decrease is also seen in the medial and anterior nuclei. In the middle, a filtered-phase image indicates accumulation of paramagnetic compounds in these areas. On the right, a schematic illustration of the nuclei of the left thalamus (figure from the atlas by Morel used with permission29). Copyright © 2019 From Stereotactic Atlas of the Human Thalamus and Basal Ganglia by Anne Morel. Reproduced by permission of Taylor and Francis Group, LLC, a division of Informa plc.

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    Fig 3.

    Typical MR imaging findings in an 11-year-old girl with AGU. A, Sagittal T1WI shows a relatively thin corpus callosum and a pineal cyst. B, Axial T2WI with typical hypointensity in the thalami and especially in the pulvinar nuclei. C, Axial T2WI shows hyperintensity in the white matter, poor differentiation between gray and white matter especially in frontal lobe, and some mildly dilated perivascular spaces. D, Axial FLAIR image also shows the hypointensity in the pulvinar nuclei and hyperintensity in the white matter. E and F, Axial SWI with hypointensity in the pulvinar and medial and anterior nuclei in the thalami. G–I, Axial DWI and ADC images show no signs of restricted diffusion.

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American Journal of Neuroradiology: 40 (11)
American Journal of Neuroradiology
Vol. 40, Issue 11
1 Nov 2019
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Cite this article
A. Tokola, M. Laine, R. Tikkanen, T. Autti
Susceptibility-Weighted Imaging Findings in Aspartylglucosaminuria
American Journal of Neuroradiology Nov 2019, 40 (11) 1850-1854; DOI: 10.3174/ajnr.A6288

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Susceptibility-Weighted Imaging Findings in Aspartylglucosaminuria
A. Tokola, M. Laine, R. Tikkanen, T. Autti
American Journal of Neuroradiology Nov 2019, 40 (11) 1850-1854; DOI: 10.3174/ajnr.A6288
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