Document Type
Article
Publication Date
8-2023
Identifier
DOI: 10.3389/fncel.2023.1216487; PMCID: PMC10436302
Abstract
COA8-related leukoencephalopathy is a recently described rare cavitating leukoencephalopathy caused by biallelic variants in the COA8 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 COA8 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.
Journal Title
Front Cell Neurosci
Volume
17
First Page
1216487
Last Page
1216487
Keywords
APOPT1; COA8-related leukoencephalopathy; COX deficiency; case report; cavitating leukoencephalopathy; mitochondrial disorders; neuropathology
Recommended Citation
Chapleau A, Boucher RM, Pastinen T, Thiffault I, Gould PV, Bernard G. Neuropathological characterization of the cavitating leukoencephalopathy caused by COA8 cytochrome c oxidase deficiency: a case report. Front Cell Neurosci. 2023;17:1216487. Published 2023 Aug 4. doi:10.3389/fncel.2023.1216487
Comments
Grant support
This research was funded by research grants from the Canadian Institutes of Health Research (377869 and 426534). This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. Publisher's Link: https://www.frontiersin.org/articles/10.3389/fncel.2023.1216487/full