Abstract
We describe a new neuroradiologic picture observed during metabolic decompensation in two maple syrup urine disease (MSUD) patients that resembles Wernicke encephalopathy (WE). Clinical observations and the review of the literature regarding WE and MSUD pathophysiology prompted us to hypothesize a pathogenic link between these two disorders. Based on these findings, clinicians and neuroradiologists should be aware of MSUD as a possible predisposing factor of WE in children.
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Brain / pathology
-
Child
-
Citric Acid Cycle
-
Female
-
Genetic Predisposition to Disease
-
Humans
-
Italy
-
Magnetic Resonance Imaging / methods
-
Male
-
Maple Syrup Urine Disease / complications
-
Maple Syrup Urine Disease / diagnosis*
-
Maple Syrup Urine Disease / genetics*
-
Mitochondria / metabolism
-
Models, Biological
-
Sequence Analysis, DNA
-
Time Factors
-
Wernicke Encephalopathy / complications
-
Wernicke Encephalopathy / metabolism*