European Journal of Radiology 74 (2010) e161–e171 Contents lists available at ScienceDirect European Journal of Radiology journal homepage: www.elsevier.com/locate/ejrad Diagnostic value of proton MR spectroscopy and diffusion-weighted MR imaging in childhood inherited neurometabolic brain diseases and review of the literature Handan Cakmakci a,∗ , Yeliz Pekcevik a , Uluc Yis b , Aycan Unalp c , Semra Kurul b a Dokuz Eylul University Faculty of Medicine, Department of Radiology, ˙ Izmir, Turkey b Dokuz Eylul University Faculty of Medicine, Department of Pediatric Neurology, ˙ Izmir, Turkey c Behcet Uz Hospital, Department of Pediatric Neurology, ˙ Izmir, Turkey article info Article history: Received 29 August 2008 Received in revised form 13 March 2009 Accepted 25 May 2009 Keywords: Magnetic resonance spectroscopy Diffusion-weighted magnetic resonance imaging Inherited childhood neurometabolic brain diseases abstract The purpose of this study is to evaluate parenchymal diffusion properties and metabolite ratios in affected brain tissues of inherited neurometabolic brain diseases with an overview of the current literature about the diagnostic data of both techniques in childhood inherited metabolic brain diseases. The study group was consisting, 19 patients (15 males, 4 females; mean age, 54 months (4.5 years); age range, 1–171 months (14.25 years)) diagnosed with inherited neurometabolic brain disease. Single- and multivoxel proton MRS was carried out and NAA/Cr, Cho/Cr, mI/Cr, Glx/Cr ratios were calculated. Presence of lactate peak and abnormal different peaks were noted. ADC values were calculated from brain lesions. Results are compared with age and sex matched normal subjects. Elevated NAA/Cr ratio (Canavan disease), galac- titol peak (galactosemia) at 3.7 ppm, branched chain amino acids (Maple syrup urine disease—MSUD) at 0.9 ppm were seen on different diseases. In Leigh disease and MSUD restricted diffusion was detected. Different diffusion properties were seen only in one Glutaric aciduria lesions. NAA/Cr ratios and calcu- lated ADC values were significantly different from normal subjects (p < 0.05). DWI combined with MRS are complementary methods to routine cranial MRI for evaluating neurometabolic diseases which can give detailed information about neurochemistry of affected brain areas. © 2009 Elsevier Ireland Ltd. All rights reserved. 1. Introduction Although MRI made possible to detect the brain lesions in child- hood metabolic disorders, it has limited specificity with regard to the pathologic conditions that underlie signal intensity [1–4]. The metabolic assessment of metabolic brain disorders offers valued insight for the diagnosis, staging, and response to treatment for patients with typically progressive diseases [1–5]. Proton magnetic resonance spectroscopy (MRS) is a tool which provides a noninvasive monitor to brain biochemistry thus may allow an earlier and more specific determination of degeneration [2]. Diffusion-weighted imaging (DWI) provides unique information on the subject of the viability of brain tissue that is not available on conventional MR sequences [4]. The purpose of this study is to evaluate parenchymal diffusion properties and metabolite ratios in affected brain tissues of inher- ∗ Corresponding author at: 1856/1 SK. No: 7/1, 35600 Karsiyaka, Izmir, Turkey. Tel.: +90 232 4125911; fax: +90 232 2599723. E-mail addresses: handan.cakmakci@deu.edu.tr, handancakmakci@gmail.com (H. Cakmakci). ited neurometabolic brain diseases with an overview of the current literature about the diagnostic benefits of both techniques in child- hood inherited nerurometabolic brain diseases. 2. Materials and methods This study was performed after the approval of the institutional ethics review board. The study group consisted of 19 patients (15 males, 4 females; mean age, 54 months (4.5 years); age range, 1–171 months (14.25 years)) diagnosed with inherited neurometabolic brain disease. Table 1 shows the patients data list and diagno- sis. The examinations were performed under oral sedation with chloral hydrate (50–75mg/kg). All patients were examined with a 1.5-T magnetic resonance unit (Intera Achieva and Gyroscan Intera, Philips, Netherlands) equipped with a standard head coil. Duration of whole MR examination was between 20 and 25 min per patient. After routine magnetic resonance imaging with spin echo T1- weighted sagittal, turbo spin echo dual-echo T2-axial, sagittal, and fluid-attenuated inversion-recovery axial sequences, trans- verse single-shot echo planar diffusion-weighted imaging (TR/TE: 5200/105 ms; field of view: 240 mm; matrix: 128 × 128; section thickness: 5 mm; intersection gap: 1.5 mm) was performed. 0720-048X/$ – see front matter © 2009 Elsevier Ireland Ltd. All rights reserved. doi:10.1016/j.ejrad.2009.05.048