Neuropathological report of propionic acidemia.
Neuropathology
; 43(2): 143-150, 2023 Apr.
Article
in En
| MEDLINE
| ID: mdl-36102083
ABSTRACT
Propionic acidemia (PA) is an autosomal recessive inheritable metabolic disease caused by mutations in the propionyl CoA carboxylase gene (PCC) that affects multiple systems of the human body. Here, we report neuropathological findings of a PA patient. The patient was a male infant who presented with increasing lethargy and poor feeding from four days postpartum. He gradually became comatose and died from complications after liver transplantation at three months old. The results of laboratory examination were consistent with PA, and genetic analysis revealed compound heterozygous mutations in the gene for PCC subunit beta c.838dupC (rs769968548) and c.1127G>T (rs142982097). Brain-restricted autopsy was performed 23 h after his death, and the neuropathological examination revealed distinct astrocytosis, oligodendrocytic loss, neuronal loss, and demyelination across the brainstem, motor cortex, basal ganglia, and thalamus. Spongiosis, vacuolization, and the appearance of Alzheimer type II astrocytes and activated microglia were observed as well. This is the first brain autopsy report of PA with a clear genetic cause.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Propionic Acidemia
Limits:
Female
/
Humans
/
Infant
/
Male
Language:
En
Journal:
Neuropathology
Journal subject:
NEUROLOGIA
/
PATOLOGIA
Year:
2023
Document type:
Article
Affiliation country:
China