Скачать с ютуб Imaging of Inborn Errors of Metabolism... made easy в хорошем качестве

Imaging of Inborn Errors of Metabolism... made easy

Inborn Errors of Metabolism are a complicated subject for basically anyone who is not a dedicated pediatric neuroradiologist. As a group, they are not that uncommon, but are on their own they are rare diseases and as a consequence, case load and familiarity are often lacking. In this presentation the imaging features of several of the most common disorders belonging to the large IEM family are discussed. The main of this presentation is not that you wil be able to diagnose each and every IEM there is on imaging appearance alone, but that you are able to analyze the images of IEM in a structured way. Just being able to suggest an IEM with a high degree of confidence or provide some differential diagnostic suggestions can be extremely helpful. 0:00 - Introduction: what are IEMs 14:10 - Imaging of IEMs 15:41 - Hypomyelinating disorders 17:40 - Pelizaeus-Merzbacher syndrome 24:02 - Some other hypomyelinating disorders 28:45 - IEMs presenting with chronic encephalopathy 29:20 - Metachromatic Leukodystrophy 36:35 - Krabbe disease 45:35 - X-linked Adrenoleukodystrophy 56:21 - Vanishing White matter disease 1:03:30 - L2-OH glutaric aciduria 1:08:18 - IEMs associated with macrocephaly 1:09:00 - IEMs presenting with acute encephalopathy 1:09:29 - Leigh syndrome 1:14:51 - MELAS 1:23:40 - Maple Syrup Urine Disease 1:26:14 - Methalmalonic acidemia 1:27:48 - Glutaric Aciduria type 1 1:29:47 - Key Messages 1:34:38 - References This video is brought to you by the neuroradiologist:   / theneuroradguy     / the_neurora.  . https://theneuroradiologist.org/ #radiology #neuroradiology #neurology #medicalstudent #neuroradiologist #theneuroradiologist #MRI #medical #pediatrics #mri #radiologytechnologist #radiologyresident #genetics #metabolism #leukodystrophy