New Neurometabolic Pathways: implications for the Pediatric Neuroradiologist by Mariasavina Severino

Lecture by Dr. Mariasavina Severino Pediatric Neuroradiologist at Gaslini Children's Hospital in Genova - Italy.
This lecture was presented at the European Course of Pediatric Neuroradiology organised by the ESNR (www.esnr.org/) and at the Great Ormond Street Hospital Pediatric Neuroscience Meeting in 2022.
Content of the Lecture:
- New insights in Autophagy Pathway-related diseases
- Neuroimaging of Vici disease: multisystem , agenesis corpus callosum, dark thalami, cerebral atrophy, small pons.
- Neuroimaging of WIPI2 deficiency: platyspondyly, small posterior corpus callosum, bright dentate nuclei.
- Glycosylation disorders: PMM2-CDG1 cerebellar atrophy + stroke-like episodes
- disorder of GPI anchor biosynthesis (PIGA, PIGN, ARV1 deficiency) : typical restriction on DWI + cerebellar atrophy

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