Childhood Mitochondrial Disorders and Other Inborn Errors of Metabolism Presenting With White Matter Disease

Abstract

Advances in neuroimaging, particularly magnetic resonance imaging (MRI), have made possible the study of normal and abnormal brain myelination. Although many disorders present with nonspecific MRI findings, more detailed analysis with newer imaging modalities such as diffusion tensor imaging (DTI), magnetic resonance spectroscopy (MRS), and magnetization transfer imaging (MTI), allow detailed investigation of white matter microstructure, abnormalities that may precede and evade detection on conventional MRI. The purpose of this chapter is to discuss the utility of neuroimaging in the study and differentiation of mitochondrial disorders and other inborn errors of metabolism. The first section will discuss imaging modalities used and their application in the diagnosis and study of metabolic disease. The second section will focus on some characteristic disorders in which abnormal white matter is visualized on neuroimaging. Although not meant to be an exhaustive summary, several key disorders and their clinical and neuroimaging features will be presented. Finally, a table as well as some examples will serve to solidify the differentiation between the disorders and illustrate the best neuroimaging modalities with which to investigate etiology and, in some cases, follow disease progression and response to therapies.Key WordsNeuroimaginginborn errors of metabolismwhite matterleukodystrophymitochondrial cytopathymagnetic resonance imagingmagnetic resonance spectroscopydiffusion tensor imaging