MR Imaging Workup of Inborn Errors of Metabolism of Early Postnatal Onset

摘要

Immediate or early postnatal onset forms of neurometabolic disorders represent a clinically important subgroup because these often present as a life-threatening episode of metabolic decompensation shortly after birth. This article focuses on this group of diseases, often referred to as " devastating neurometabolic diseases" of the newborn. Awareness of the most common entities and their clinical, biochemical, and diagnostic imaging manifestations is important because if undiagnosed and untreated, the diseases may have catastrophic consequences. Although formal diagnosis relies on laboratory tests, diagnostic imaging is often pivotal in both reaching the correct diagnosis and/or orienting further targeted investigative efforts.