Adult presentation of a rare mitochondrial tRNA Val gene mutation-an expanding clinical phenotype.

ABSTRACT:

Background and purpose

Late-onset mitochondrial disorders are diagnostically challenging with significant heterogeneity in disease presentation. A case is reported of a 67-year-old gentleman who presented with a 3-month history of seizures, recurrent encephalopathy, ataxia and weight loss, preceded by recent initiation of haemodialysis for end-stage chronic kidney disease.

Methods

Extensive work-up including serological, cerebrospinal fluid, magnetic resonance imaging and electroencephalography was performed. Whole exome sequencing and muscle biopsy confirmed the diagnosis.

Results

Magnetic resonance imaging brain demonstrated a single non-enhancing T2 fluid attenuated inversion recovery hyperintense cortical/subcortical signal change in the right temporal lobe and ce

SUBMITTER: Joyce E 

PROVIDER: S-EPMC11414816 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature