Unique neuroradiological findings in propionic acidemia

Area of Science:

• Biochemistry
• Neurology
• Genetics

Background:

• Propionic acidemia is a rare organic acidemia impacting branched-chain amino acid and odd-chain fatty acid metabolism.
• It is characterized by the accumulation of toxic metabolites, leading to various clinical manifestations.

Observation:

• This study details two novel cases of propionic acidemia with previously uncharacterized brain MRI findings.
• The first case involved an infant exhibiting diffuse subcortical diffusion restriction and cerebellar vermian atrophy.
• The second case presented an adolescent with asymmetric cortical volume loss and contralateral cortical diffusion restriction.

Findings:

• The observed neuroimaging findings in these cases are distinct from previously reported patterns in propionic acidemia.
• Specific MRI abnormalities included subcortical diffusion restriction, vermian atrophy, and asymmetric cortical volume loss.
• These findings highlight the diverse neurological impact of propionic acidemia.

Implications:

• The unique brain MRI findings described may serve as crucial indicators for neuroradiologists.
• Recognition of these patterns can facilitate earlier diagnosis of propionic acidemia.
• This aids in guiding genetic testing for individuals with suspected, yet undiagnosed, metabolic disorders.