Case report: MR spectroscopy in pantothenate kinase-2 associated neurodegeneration

Abstract

We report a case of a 13-year-old girl with Hallervorden-Spatz disease (HSD) or pantothenate kinase-2 associated neurodegeneration (PKAN). HSD is a rare neurodegenerative disorder, which is characterized by a rapidly progressive extrapyramidal syndrome, dementia with optic atrophy, and retinal degeneration. It is associated with accumulation of cysteine-iron complex in the globus pallidi and substantia nigra. The MRI "eye of the tiger" sign is the characteristic. MRI spectroscopy is also characteristic. It shows markedly decreased NAA/Cr values in the globus pallidi and substantia nigra with increased mI/Cr values that suggest of gliosis.

Keywords

• basal ganglia
• dystonia
• hallervorden–spatz disease
• iron deposition
• magnetic resonance spectroscopy
• pkan