Increased Signal Intensity in the Pulvinar on T1-Weighted Images: A Pathognomonic MR Imaging Sign of Fabry Disease
David F. Moorea,
Frank Yeb,
Raphael Schiffmanna and
John A. Butmanc
a Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD
b Functional MRI Facility, Intramural Research Program, National Institute of Mental Health, National Institutes of Health, Bethesda, MD
c Diagnostic Radiology Department, Clinical Center, National Institutes of Health, Bethesda, MD
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FIG 1. A, Age distribution of patients with (black bars) and those without (gray bars) hyperintensity on T1-weighted images. B, Percentage of patients with hyperintensity on T1-weighted images by decade of age (n = 94 patients)
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FIG 2. Serial, axial T1-weighted MR images (5-mm sections) demonstrate the range of pulvinar hyperintensities observed.
A and B, Mild to moderate abnormality.
C, Marked abnormality.
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FIG 3. Comparison of CT and MR findings in the posterior thalamus.
A–C, T1-weighted images through the thalamus in three patients with mild (A), moderate (B), and marked (C) hyperintensity, respectively.
D–F, Corresponding CT scans demonstrate increased attenuation indicating calcification is present only in the moderate and marked cases.
G–I, Corresponding gradient-echo T2*-weighted images demonstrate that susceptibility-induced signal intensity loss is seen in the pulvinar in only the moderate and marked cases. Numbers in upper right are patient identifiers.
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FIG 4. A–C, Selected axial CT scans demonstrate dystrophic calcification of the subcortical arcuate fibers, globus pallidus, pulvinar, and cerebellar corticomedullary junction in a more severely affected patient with Fabry disease. Number in upper right is the patient identifier.
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FIG 5. Direct axial AST images demonstrate increased relative CBF in the thalamus and posterior circulation at the anterior and posterior commissure plane in a patient without (A) and one with (B) the T1-weighted MR imaging abnormality. The dark thalamic regions in the pulvinar in B correspond to the damaged mineralized areas in the midst of the still hyperperfused pulvinar region.
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