Singh Navjot,  Dola Venkata,  Schroeder Jason

Final Pr. ID: Poster #: EDU-084

Introduction
Inborn errors of metabolism (IEM) encompass a spectrum of disorders resulting from genetic defects affecting metabolic pathways. These defects can involve deficiencies of enzyme, its cofactor or transporter, leading to either insufficient myelin precursor production or the accumulation of toxic substrates in the brain. Most IEMs follow an autosomal recessive inheritance pattern, although a few are X-linked. In the diagnostic toolkit, alongside genetic testing and newborn metabolic screens, magnetic resonance imaging (MRI) plays a pivotal role in differentiating various metabolic disorders. There may be overlap in the imaging features of different diseases, especially in the advanced stages where white matter changes become more similar. In some cases, neuroimaging is performed before newborn screening results become available, and when interpreted accurately, it can facilitate early intervention.

In this educational exhibit, we will highlight key neuroimaging findings of structural abnormalities that provide valuable clues in diagnosing IEMs. These findings may include corpus callosum abnormalities, cortical dysplasia, cerebellar abnormalities, vascular abnormalities, and enhancement patterns, all of which aid in narrowing down the differential diagnosis of IEMs.

Conclusion
The diagnosis of pediatric IEMs is a complex task that often necessitates a multidisciplinary approach, complemented by metabolic panel testing and genetic analysis. The neuroimaging approach proves to be a valuable tool for refining the list of potential diagnoses based on brain structural abnormalities and guiding clinicians towards specific confirmatory tests. Read More

Authors:  Singh Navjot , Dola Venkata , Schroeder Jason

Keywords:  IEM, MRI