Increased ethylmalonic acid (EMA) in urine is a non-specific finding, and is observed in a number of inborn errors of
metabolism, as well as in individuals who carry one of two common polymorphisms identified in the SCAD coding
region. The authors present an 8-month-old girl with a suspicion of neuroinfection, although the clinical presentation
led to diagnosis of ethylmalonic aciduria. From the neuropathological point of view the most remarkable changes
were observed in the brain cortex, which was diffusely damaged practically in all regions of the brain. Of note, the
most severe destruction was observed in the deepest regions of the sulci. The cortex of the affected regions showed
no normal stratification and its structure was almost totally replaced by a form of "granulation tissue" with a markedly
increased number of capillaries. To the authors’ knowledge this is the first clinical report of ethylmalonic aciduria
with brain autopsy findings
