Abstract
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.
Original language | English |
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Pages (from-to) | 73-74 |
Number of pages | 2 |
Journal | Journal of Experimental and Clinical Medicine |
Volume | 4 |
Issue number | 1 |
DOIs | |
Publication status | Published - Feb 2012 |
Keywords
- Eye-of-the-tiger sign
- Hallervorden-Spatz syndrome
- Pantothenate kinase 2
ASJC Scopus subject areas
- General Medicine