RT Journal Article
SR Electronic
T1 Toward a Better Understanding of Brain Lesions during Metachromatic Leukodystrophy Evolution
JF American Journal of Neuroradiology
JO Am. J. Neuroradiol.
FD American Society of Neuroradiology
DO 10.3174/ajnr.A3038
A1 A. Martin
A1 C. Sevin
A1 C. Lazarus
A1 C. Bellesme
A1 P. Aubourg
A1 C. Adamsbaum
YR 2012
UL http://www.ajnr.org/content/early/2012/04/26/ajnr.A3038.abstract
AB BACKGROUND AND PURPOSE: The prospect of new therapies in MLD stresses the need to refine the indications for treatment. The aim of this study was, therefore, to perform a detailed analysis of MRI brain lesions at diagnosis and follow-up, to better understand the natural history of MLD. MATERIAL AND METHODS: This retrospective case-control study (2005–2010) looked at 13 patients with MLD (2–5 years of age) with 28 MRIs (mean follow-up, 2 years), compared with 39 age- and sex-matched controls. All MRIs were evaluated qualitatively and semiquantitatively. The Student t test, Wilcoxon signed rank test, and Pearson correlation were used for statistical analysis (P < .05). RESULTS: In addition to diffuse symmetric supratentorial WM T2 hyperintensities with a tigroid pattern (70%) and T2 hyperintensities in the CC (100%) and internal capsules (46%), we found significant GM abnormalities such as thalamic T2 hypointensity (92%), thalamic (23%, P < .05, EJ) and caudate nuclei (23%, P < .05, EJ) atrophy, and cerebellar atrophy without WM involvement (15%). The pattern of splenium involvement progression was misleading, with initially diffuse high signal intensity, which later became curvilinear before finally progressing to atrophy (23%, P < .05; EJ). This should not be mistaken for a disease regression. Spectroscopy confirmed a decrease in the NAA/Cr ratio, an increase in the Cho/Cr ratio and in myo-inositol, and a lactate resonance. CONCLUSIONS: Thalamic changes may be a common finding in MLD, raising the prospect of primary GM lesions. This may prove important when evaluating the efficacy of new treatments. Abbreviations ARSAarylsulfatase ACCcorpus callosumCTcapsulothalamicGMgray matterEJearly juvenile formLIlate infantile formMLDmetachromatic leukodystrophy