Original Research Relaxation and Susceptibility MRI Characteristics in Hallervorden-Spatz Syndrome Sunali Vinod Desai, MD, 1 Parayil Shankaran Bindu, MD, 2 Shivasankar Ravishankar, MD, 1 Peruvumba Narayan Jayakumar, MD, 1 * and Pramod Kumar Pal, MD 2 Purpose: To evaluate the imaging characteristics of the brain with respect to relaxation and susceptibility in Hall- ervorden-Spatz syndrome (HSS), a rare inherited neurode- generative disorder (also referred to as neurodegeneration with brain iron accumulation). Materials and Methods: We reviewed 13 affected individu- als 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 equip- ment. The imaging protocol included spin-echo (SE) T1- weighted (T1W), turbo spin-echo (TSE) T2W, and fluid atten- uated 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 oxy- gen 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) bi- laterally. Central or anteromedial hyperintensity was found in all but one patient. FLASH showed augmented hypoin- tensity in 10 patients, and BOLD showed bilateral stria- tonigral abnormal pigmentation in two patients. MR spec- troscopy (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 dep- osition in the GP better than conventional imaging. Involve- ment of the striatonigral pathways was demonstrated for the first time on BOLD SWI. Key Words: Hallervorden-Spatz syndrome; MR imaging; SWI; BOLD; FLASH; proton spectroscopy J. Magn. Reson. Imaging 2007;25:715–720. © 2007 Wiley-Liss, Inc. HALLERVORDEN-SPATZ SYNDROME (HSS) is a meta- bolic neurodegenerative disorder characterized clini- cally by gait abnormalities, progressive dysarthria, equinovarus deformity of the feet, rigidity of the legs, progressive diminution of all voluntary movements and mental deterioration. The clinical course is relentlessly progressive, with an autosomal-recessive inheritance pattern in approximately half of the patients (1). In the absence of a reliable biochemical test, a diagnosis of HSS can be confirmed only by the characteristic deep, yellowish brown discoloration of the globus pallidus (GP) and reticular zone of the substantia nigra on his- tology (2). This discoloration has been attributed to deposition of excessive amounts of non-heme iron in the form of metalloprotein ferritin (3) while iron levels in the blood and cerebrospinal fluid (CSF) remain normal (4). Previ- ous MRI studies with an emphasis on T2-weighted imaging (T2WI) demonstrated the abnormal mineral deposition and some characteristic features (5). Sus- ceptibility-weighted MRI (SWI) has been shown to be superior in its ability to demonstrate mineral deposition in the brain (6). Since HSS is a disease of abnormal mineral deposition, in this study we examined imaging characteristics with respect to relaxation and suscepti- bility patterns with different pulse sequences in 13 pa- tients with childhood-onset HSS. MATERIALS AND METHODS The medical records of 13 patients (nine males and four females, 6 –21 years old, mean = 9.5 years; Table 1) who were seen at our center between 1998 and 2005 with a diagnosis of HSS were reviewed. The patients were identified on the basis of clinical and radiological find- ings, and divided into two groups: early-childhood on- set (age of onset before 10 years) and late-childhood onset (age of onset after 10 years) (1,7). There were 10 patients in the first group and three patients in the second group. Obligatory clinical features included on- set during the first two decades of life, progression of signs and symptoms, evidence of extrapyramidal dys- function, and hypointense areas on MRI involving the basal ganglia. Corroborative features included cortico- spinal tract involvement, progressive intellectual im- pairment, retinitis pigmentosa, optic atrophy, and fam- ily history of similar disorder. 1 Department of Neuroimaging and Interventional Radiology, National Institute of Mental Health and Neurosciences, Bangalore, India. 2 Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, India. *Address reprint requests to: S.V.D., Assistant Professor, Department of Radiodiagnosis and Imaging, Rasturba Medical College, MAHE, Udupi, Karnataka, Manipal, India 576104 E-mail: sunalidesai@yahoo.com Received April 2, 2005; Accepted September 27, 2006. DOI 10.1002/jmri.20830 Published online 12 March 2007 in Wiley InterScience (www.interscience. wiley.com). JOURNAL OF MAGNETIC RESONANCE IMAGING 25:715–720 (2007) © 2007 Wiley-Liss, Inc. 715