MR Neuroimaging in Pediatric Inborn Errors of Metabolism

Inborn errors of metabolism (IEM) are a group of disorders due to functional defects in one or more metabolic pathways that can cause considerable morbidity and death if not diagnosed early. While individually rare, the estimated global prevalence of IEMs comprises a substantial number of neonatal and infantile disorders affecting the central nervous system. Clinical manifestations of IEMs may be nonspecific. Newborn metabolic screens do not capture all IEMs, and likewise, genetic testing may not always detect pathogenic variants. Neuroimaging is a critical component of the work-up, given that imaging sometimes occurs before prenatal screen results are available, which may allow for recognition of imaging patterns that lead to early diagnosis and treatment of IEMs. This review will demonstrate the role of magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (H-1 MRS) in the evaluation of IEMs. The focus will be on scenarios where MRI and H-1 MRS are suggestive of or diagnostic for IEMs, or alternatively, refute the diagnosis.

Automated summary

Inborn errors of metabolism (IEM) are a group of disorders caused by functional defects in metabolic pathways. Despite being individually rare, they have a significant impact on the central nervous system of neonatal and infantile populations worldwide. Early diagnosis is crucial, but the nonspecific clinical manifestations and limitations of routine screening and genetic testing make neuroimaging a critical component in the evaluation process.