Neuropathological report of propionic acidemia.

Area of Science:

• Biochemistry
• Genetics
• Neuropathology

Background:

• Propionic acidemia (PA) is an inherited metabolic disorder.
• It results from mutations in the propionyl CoA carboxylase (PCC) gene.
• PA affects multiple organ systems, including the brain.

Observation:

• A male infant presented with lethargy and poor feeding, progressing to coma.
• Laboratory results confirmed PA; genetic analysis identified compound heterozygous mutations in the PCCB gene.
• Neuropathological examination of the brain revealed astrocytosis, neuronal and oligodendrocytic loss, and demyelination.

Findings:

• The patient exhibited widespread neuropathological changes including spongiosis, vacuolization, Alzheimer type II astrocytes, and activated microglia.
• Specific brain regions affected included the brainstem, motor cortex, basal ganglia, and thalamus.
• This is the first brain autopsy report of PA with a confirmed genetic cause.

Implications:

• This case highlights the severe neurological impact of PA.
• Understanding these neuropathological findings is crucial for diagnosing and managing PA.
• Further research into PA's neurological mechanisms may inform therapeutic strategies.