T1 hyperintensity in the pulvinar: key imaging feature for diagnosis of Fabry disease

Fabry disease (FD) is an inborn error of glycosphingolipid metabolism. To date, no specific neuroimaging features have been elucidated to help in making the diagnosis of this disorder. The purpose of this study was to determine whether the finding of T1 shortening in the lateral pulvinar is a useful finding in the imaging diagnosis of FD and to deduce the relationship of this finding to the pathophysiology of the disease.

We studied T1- and T2-weighted images obtained in ten patients (nine male and one female) with FD with an age range of 19-59 years. The images were examined for anatomic aberrations and areas of abnormal signal intensity (SI) in both gray matter and white matter. The SI of deep gray matter was evaluated qualitatively and semiquantitatively, relative to the SI of CSF or the genu of the corpus callosum. Gradient echo MR images and axial noncontrast CT images were available for one patient.

Seven of 10 patients showed small areas of T2 prolongation in the white matter of the cerebral hemispheres. Despite the known propensity for vascular disease in these patients, only one had cortical infarction. Bilateral T1 shortening in the lateral pulvinar was recognized in at least seven patients, all over the age of 30 years, who also had small areas of T2 prolongation in the white matter. CT and gradient echo images in one patient revealed no evidence of calcification or metallic deposits in the pulvinar.

Bilateral T1 shortening in the lateral pulvinar is a common finding in FD and may be useful in suggesting this diagnosis.