P73 – 2405: Brain MRI findings in children with lysosomal storage disorders

Abstract

Objective Central nervous system (CNS) are usually affected in cildren with lysosomal storage disorders (LSD). Metachromatic leukodystrophy (MLD), Krabbe's disease (KD) and GM gangliosidosis (GMG) are among the most widely recognized causes of CNS injury in LSD. In this study, because the MRI findings are very helpfull for early and differential diagnosis, we aimed to describe the characteristic MRI patterns of these disorders. Methods This study include thirty-six cases with LSD (16 MLD, 10 KD, and 10 GMG), which diagnosed by clinical, radiological, enzymatic and/or genetic investigations. Patients records and MRI findings were described by retrospectively and compared with literature. Results Progressive symetric periventricular white matter involvement, tigroid patern, early callosal involvement and U-fiber sparing are the most common findings in children with MLD. Thalamic hypointensity, relatively less known, was observed in six cases. Relatively rapidly progressive parietal periventricular white matter involvement and atrophy, posterior limb of the internal capsul and cerebellar white matter involvement are the most important findings in cases with KD. Thickening of optic nerve sheat, the most determining early finding, was defined in all cases. Tigroid patern was only seen in three cases with KD. Diffuse cerebral white matter hypomyelination/dismyelination, hyperintensity of corpus striatum, sparing of corpus callosum and thalamic hypointensity, the characteristic findings of GM gangliosidosis, were determined in all cases. Cerebellar white matter and brain-stem involvement were found in three and two cases respectively. MRI findings of GM1 were similar to GM2 gangliosidosis. Conclusion In this study, MRI patterns and findings of LSD were descibed in a large series, which reflect some characteristic features. If these patterns are early detected, it can be diagnostic or suggestive for a specific disease.