Relaxation and susceptibility MRI characteristics in Hallervorden-Spatz syndrome

Purpose: To evaluate the imaging characteristics of the brain with respect to relaxation and susceptibility in Hallervorden-Spatz-syndrome (HSS), a rare inherited neurodegenerative disorder (also referred to as neurodegeneration with brain iron accumulation). Materials and Methods: We reviewed 13 affected individuals who satisfied the inclusion criteria for HSS. Clinically, the patients were divided into two groups: early-childhood onset (age of onset before 10 years) and late-childhood onset (age of onset after 10 years). MRI was performed on 1.5T MR equipment. The imaging protocol included spin-echo (SE) T1-weighted (T1W), turbo spin-echo (TSE) T2W, and fluid attenuated inversion recovery (FLAIR) sequences in all patients. Susceptibility-weighted imaging (SWI) included a fast low-angle shot (FLASH) sequence in 10 patients and a blood oxygen level-dependent (BOLD) sequence in two patients. Results: All of the patients showed hyperintensity on T1WI and hypointensity on T2WI in the globus pallidi (GPs) bilaterally. Central or anteromedial hyperintensity was found in all but one patient. FLASH showed augmented hypointensity in 10 patients, and BOLD showed bilateral striatonigral abnormal pigmentation in two patients. MR spectroscopy (MRS) showed normal spectra in four patients, and a reduced NAA/Cho ratio in two. Conclusion: MRI showed prominent signal abnormalities in the GP bilaterally in HSS. T1WI showed hyperintensity in all cases of HSS in addition to the "eye-of-the-tiger" sign on T2WI. SWI, FLASH, and BOLD demonstrated mineral deposition in the GP better than conventional imaging. Involvement of the striatonigral pathways was demonstrated for the first time on BOLD SWI.