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

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