Neuroimaging aspects of cerebral organic acidurias

ICNC2024
Symposia: The ‘Cerebral’ In Organic Acidurias: From Basics To Treatment

Neuroimaging aspects of cerebral organic acidurias
Ajay Taranath

Neuroimaging is complementary to the clinical examination and lab tests in the diagnosis of OAD. The findings at conventional and advanced magnetic resonance imaging may suggest the correct diagnosis, help narrow the differential diagnosis, and consequently facilitate early initiation of targeted metabolism- and genetics-based laboratory investigations and treatment. Neuroimaging may be especially helpful for distinguishing organic acidemias and aminoacidopathies from other more common diseases with similar manifestations, such as hypoxic-ischemic injury and neonatal sepsis. Therefore, it is important that radiologists, neuroradiologists, pediatric neuroradiologists, and clinicians are familiar with the neuroimaging findings of organic acidemias and aminoacidopathies. Advanced techniques such as Diffusion tensor imaging and Magnetic resonance spectroscopy (MRS) will help narrow down possibilities. Involvement of the basal ganglia, thalami, brainstem, dentate nuclei is usually seen in addition to the involvement of the cerebral and cerebellar cortices and subcortical white matter. Whilst most of these are manifestations can be expected in OAD’s, the speaker will present imaging findings with identification of distinctive and discriminating features that will aid learners to develop a better understanding of the utility of neuroimaging in OAD.