PMC3619544_01
(a) Axial T1 weighted, (b) coronal T2 weighted, and (c) axial fluid attenuation inversion recovery MRI showing low signal intensity in the bilateral globus pallidus with a medial area of signal intensity, presenting the classic "eye-of-the-tiger" sign. (d) Axial fluid attenuation inversion recovery MRI shows bilateral low signal intensity in the substantia nigra pars reticulata.
CRIM.NM2013-860201.001.jpg
PMC3619544_01_CRIM.NM2013-860201.001.jpg
fig1
T2 weighted hypodensities in the globus pallidus with a medial area of hyperintensity consistent with the "eye of the tiger" sign (see Figure 1). This new imaging finding prompted a referral for genetic testing at the age of 54 which revealed a known homozygous pathogenic mutations (881A>T/p.N294I) confirming the diagnosis of PKAN.