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 (https://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