AI Article Synopsis
- COA8-related leukoencephalopathy is a rare brain disorder caused by mutations in a specific gene, showing varied clinical presentations and often featuring a bi-phasic course with acute onset followed by stabilization or slight improvement.
- The case presented involves a 4-year-old boy who experienced severe neurological decline due to a specific genetic deletion, leading to death shortly after onset, while brain imaging indicated a significant pattern of white matter damage that showed improvement on a follow-up scan.
- This study represents the first detailed examination of the brain pathology associated with COA8-related leukoencephalopathy, highlighting extensive white matter damage, inflammation, and the preservation of certain brain cell types in the affected areas.
Article Abstract
COA8-related leukoencephalopathy is a recently described rare cavitating leukoencephalopathy caused by biallelic variants in the gene. Clinically, it presents heterogeneously and usually follows a bi-phasic clinical course with a period of acute onset and regression, followed by stabilization, and in some cases, even subtle improvement. We present a 4-year-old boy with a homozygous 2.5 kilobase pair deletion in the gene following a severe neurological deterioration resulting in death weeks after onset. Brain MRI revealed a distinctive pattern of cavitating leukodystrophy predominantly involving the posterior cerebral white matter which improved upon a follow-up MRI a month later. Brain pathology displayed overall white matter destruction with gliosis and infiltration by macrophages. There was preservation of astrocytes around blood vessels and axons around the zones of demyelination. This study is the first neuropathological examination of COA8-related leukoencephalopathy and provides further characterization of the clinical and MRI phenotype.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10436302 | PMC |
| http://dx.doi.org/10.3389/fncel.2023.1216487 | DOI Listing |
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