Increased signal intensity in the pulvinar on T1-weighted images: a pathognomonic MR imaging sign of Fabry disease.
OBJECTIVE
Fabry disease is a multisystem X-linked disorder characterized clinically by angiokeratoma, corneal and lenticular abnormalities, acroparesthesia, and renal and cardiac dysfunction and stroke. We sought to describe novel neuroimaging characteristics of Fabry disease.


METHODS
Neuroradiologic records of 104 hemizygous patients with Fabry disease evaluated between 1994 and 2002 were reviewed. In total, 94 MR studies consisting of T1- and T2-weighted images were examined for the presence of hyperintensity on the T1-weighted images. Additional CT, gradient-echo (T2*-weighted), and fat-suppression MR studies were reviewed to characterize further the T1 abnormality in selected patients. In some patients, cerebral blood flow (CBF) was quantified by using arterial spin tagging (AST).


RESULTS
Overall, 22 patients ( approximately 23%) demonstrated pulvinar hyperintensity on T1-weighted images; the frequency increased with age to over 30% by age 50 years. Susceptibility-weighted T2* studies demonstrated a low-signal-intensity abnormality in the pulvinar in the more severe cases, whereas CT demonstrated the pulvinar to be mineralized. CT attenuation corresponded with an increasing signal intensity on T1-weighted images. Posterior circulation CBF was found to be elevated on individual AST studies, especially in the thalamus.


CONCLUSIONS
Hyperintensity in the pulvinar on T1-weighted images is a common finding in Fabry disease, likely reflecting the presence of calcification. Although other minreralizing abnormalities may result in calcification of deep gray nuclei, exclusive involvement of the pulvinar may be distinctively characteristic to Fabry disease. Increased CBF in the posterior circulation, particularly the thalamus, suggests that the dystrophic calcification is secondary to cerebral hyperperfusion and selective vulnerability of the pulvinar and adjacent thalamic nuclei. The finding of isolated pulvinar hyperintensity on T1-weighted images should suggest Fabry disease, particularly when seen in conjunction with other nonspecific neuroradiologic manifestations of the disease.
Moore
David F
DF
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, 9000 Rockville Pike, Bethesda, MD 20892, USA.
Ye
Frank
F
Schiffmann
Raphael
R
Butman
John A
JA
D000293:Adolescent; D000328:Adult; D001783:Blood Flow Velocity / Q000502:physiology; D001921:Brain / Q000098:blood supply; D020739:Brain Diseases, Metabolic, Inborn / Q000175:diagnosis* / Q000235:genetics; D002114:Calcinosis / Q000175:diagnosis / Q000235:genetics; D002648:Child; D041321:Chromosomes, Human, X; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D007089:Image Enhancement; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D020649:Pulvinar / Q000098:blood supply / Q000473:pathology*; D012039:Regional Blood Flow / Q000502:physiology; D012680:Sensitivity and Specificity; D012729:Sex Chromosome Aberrations; D013787:Thalamic Nuclei / Q000098:blood supply / Q000473:pathology; D014057:Tomography, X-Ray Computed