Leukoencephalopathy From SDHAF1-Related Mitochondrial Deficiency

Abstract

We present exceedingly rare cases of leukoencephalopathy due to SDHAF1-related mitochondrial complex II deficiency in identical twins. These findings contribute to the scarcity of reports present in both the radiology literature and the medical literature describing imaging characteristics associated with this condition. Like other mitochondrial disorders affecting the CNS, this disease typically presents in infants or young children with symptoms of weakness, hypotonia, and developmental regression. However, the imaging findings of SDHAF1-related mitochondrial complex deficiency in this pair of patients are unique and include symmetric white matter diffusion restriction most pronounced in the genu and splenium of the corpus callosum with sparing of the body. We propose that the specific imaging findings described in this report may be considered pathognomonic and may therefore be added to the list of previous neuroimaging findings associated with this entity.  Recognition of this distinctive pattern by radiologists would allow for a prospective diagnosis on imaging that can then be confirmed with genomic testing and magnetic resonance spectroscopy analysis.