Cerebral imaging for inborn errors of metabolism. A pediatric approach

In children with cerebral symptoms of unidentified origin, cerebral imaging has an early place in the diagnostic process. Inborn errors of metabolism with cerebral repercussions frequently cause relatively mild but sometimes very characteristic magnetic resonance imaging (MRI) changes. These alterations can give indications for groups of metabolic disturbances and occasionally lead directly to the diagnosis. A prerequisite is a systematic search for certain patterns of brain lesions in addition to an adequate examination technique. The most important of such patterns are presented. As many metabolic errors have an effect on brain maturation, image analysis, in particular of children under the age of 2 years, must pay careful attention to the age-adequate stage of myelination. When pediatricians already suspect a metabolic disease on clinical grounds, a discussion with neuroradiologists prior to imaging is advisable in order to make optimal use of special auxiliary techniques, such as diffusion tensor imaging, susceptibility-weighted imaging, MR spectroscopy or T2 relaxometry.