Showing 2 Abstracts.
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
Meeting name: SPR 2024 Annual Meeting & Postgraduate Course , 2024
Authors: Singh Navjot, Dola Venkata, Schroeder Jason
The inner ear malformations are intricate and challenging to interpret without knowledge of their developmental origins and structural approach. This exhibit aims to simplify the understanding of these anomalies by correlating them with embryological development and structural concepts. We will start with a brief description of standard CT and MR protocols and normal inner ear anatomy. Then, we will systematically cover embryological development, potential pathologies, key imaging methods, and a helpful interpretation checklist for accurate diagnosis. A comprehensive understanding of inner ear embryological development, combined with the use of standard protocols and a systematic anatomical approach, simplifies the interpretation of intricate congenital anatomy. Read More
Meeting name: SPR 2024 Annual Meeting & Postgraduate Course , 2024
Authors: Dola Venkata, Singh Navjot, Schroeder Jason
Keywords: congenital inner ear malformations