TY - JOUR
T1 - Presence of the Eye-of-the-tiger Sign on Magnetic Resonance Imaging in a Subject with Atypical Hallervorden-Spatz Syndrome Lacking Pantothenate Kinase 2 Mutation
AU - Yang, Szu Kuan
AU - Hu, Chaur Jongh
AU - Yuan, Rey Yue
AU - Wang, Hung-Jung
AU - Sheu, Jau Jiuan
PY - 2012/2
Y1 - 2012/2
N2 - Hallervorden-Spatz syndrome (HSS) is generally considered to be a rare neurodegenerative disorder associated with autosomal recessive pantothenate kinase-associated neurodegeneration or neurodegeneration with brain iron accumulation. The most well-known hallmark of the syndrome is the eye-of-the-tiger sign on the brain magnetic resonance imaging (MRI) scan. Previous studies have highlighted a one-to-one correlation between the MRI findings of the eye-of-the-tiger sign and the presence of a pantothenate kinase 2 (PANK2) mutation, postulating that the MRI appearance is a good diagnostic tool for identifying PANK2 mutation-positive cases. We report an atypical HSS patient without a PANK2 mutation, who had an eye-of-the-tiger sign on MRI, therefore strengthening the notion of genetic and radiological heterogeneity in HSS.
AB - Hallervorden-Spatz syndrome (HSS) is generally considered to be a rare neurodegenerative disorder associated with autosomal recessive pantothenate kinase-associated neurodegeneration or neurodegeneration with brain iron accumulation. The most well-known hallmark of the syndrome is the eye-of-the-tiger sign on the brain magnetic resonance imaging (MRI) scan. Previous studies have highlighted a one-to-one correlation between the MRI findings of the eye-of-the-tiger sign and the presence of a pantothenate kinase 2 (PANK2) mutation, postulating that the MRI appearance is a good diagnostic tool for identifying PANK2 mutation-positive cases. We report an atypical HSS patient without a PANK2 mutation, who had an eye-of-the-tiger sign on MRI, therefore strengthening the notion of genetic and radiological heterogeneity in HSS.
KW - Eye-of-the-tiger sign
KW - Hallervorden-Spatz syndrome
KW - Pantothenate kinase 2
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U2 - 10.1016/j.jecm.2011.11.014
DO - 10.1016/j.jecm.2011.11.014
M3 - Article
AN - SCOPUS:84856226942
SN - 1878-3317
VL - 4
SP - 73
EP - 74
JO - Journal of Experimental and Clinical Medicine
JF - Journal of Experimental and Clinical Medicine
IS - 1
ER -