First looking at the computed
tomography (CT) examination, there are bilateral thalamic hyperdensities, which
without a magnetic resonance imaging (MRI) study could represent calcifications
or hemorrhage. The distribution would not be typical for hemorrhage associated with
a trauma and raises the possibility of a different etiology (eg, possibly venous
infarct). On the MRI, the previously seen areas of hyperdensities show low
signal on the susceptibility weighted images, and the pulvinar of the thalami
intrinsic has T1 shortening, which is bilateral and symmetric. Additionally,
there are numerous low signal foci on susceptibility-weighted images within
primarily the subcortical and deep white matter to include the corpus callosum.
This is most consistent with chronic micro hemorrhages, which may relate to
amyloidosis or chronic hypertension. T2/FLAIR images demonstrate scattered
periventricular and deep white matter foci of hyperintense signal. Additionally,
there is abnormal FLAIR signal overlying the anterior right frontal lobe sulci,
which is low signal on susceptibility images and is consistent with subarachnoid
Fabry disease is an X-linked
inborn error of glycosphingolipid catabolism resulting from a deficient
activity of the hydrolase α-galactosidase A. Diagnosis of the disease is
actually relevant as the disease can be treated with an enzymatic substitutive
therapy, which has been available since 2001. In absence of this specific
therapy, the life expectancy in men is around 50.
The main mechanism of CNS
manifestations is small vessel ischemia, which results in ischemic strokes
(most commonly involving the posterior circulation).
On head CT, findings include
calcium in the lateral pulvinar, globus pallidus, putamen, substania nigra, and
dentate nuclei. As is the case with most things, MRI is more sensitive than CT to
detect CNS involvement from the disease. On T2/FLAIR, patients may display
nonspecific asymmetric, widespread deep white-matter nodules that are
hyperintense and predominantly located in the frontal and parietal lobes. On
T1-weighted imaging, hyperintensity of the deep gray nuclei can be observed,
particularly in the lateral pulvinar (as is seen in this case). This T1
hyperintensity in the pulvinar is considered pathognomonic. Both T2 and T1
changes have been shown to undergo regression with early institution of
Fabry’s disease has
the potential to affect multiple organ systems, not just the brain. The kidneys
tend to thin and develop multiple small uniform appearing cysts. End stage
renal failure is typical by the fourth decade. Aortic valve thickening is seen
in 25% of patients with the disease. AVN of the femoral heads has been
The primary learning point is
that bilateral T1 high signal in the lateral pulvinar with associated
calcifications should prompt the addition of Fabry’s to the differential
- Buechner S, Moretti M,
Burlina, AP, et al: Central nervous system involvement in Anderson-Fabry
disease: A clinical and MRI retrospective study. J Neurol Neurosurg Psychiatry. 2008;79:1249-1254.
- Burlina AP, Manara R,
Caillaud C, et al. The pulvinar sign: Frequency and clinical correlations in
Fabry disease. J Neurol. 2008;255:738-744.
- Fellgiebel A, Miller MJ,
Ginsberg G, et al. CNS manifestations of Fabry’s disease. Lancet Neurol. 2006;5:791-795.
- Ginsberg L, Manara R,
Valentine AR, et al. Magnetic resonance imaging changes in Fabry disease. Acta Paediatr Suppl. 2006;95:57-62.
- Lidove O, Klein I, Lelievre
JD, et al: Imaging features of Fabry disease. AJR Am J Roentgenol. 2006;186:1184-1191.
- Takanashi J, Barkovich AJ,
Dillon WP, et al. T1 hyperintensity in the pulvinar: Key imaging feature for
diagnosis of Fabry disease. AJNR Am J