Early spinal cord and brainstem involvement in infantile Leigh syndrome possibly caused by a novel variant

Area of Science:

• Neuroscience
• Genetics
• Pediatrics

Background:

• Leigh syndrome is a severe, genetically diverse mitochondrial disorder affecting energy metabolism.
• It typically manifests in infancy or childhood with progressive neurologic decline.
• Clinical and neuroimaging presentations can be highly variable, especially early on.

Observation:

• This report describes an infant with Leigh syndrome exhibiting unusual neuroimaging findings.
• Early and severe involvement of the cervical spinal cord and brainstem was observed.
• Injury to the thalami and basal ganglia occurred late in the clinical course.

Findings:

• Postmortem examination confirmed the observed timing of central nervous system injury.
• Mitochondrial DNA sequencing identified a novel homoplasmic variant.
• This variant is potentially responsible for this distinct, lethal presentation of Leigh syndrome.

Implications:

• This case expands the understanding of Leigh syndrome's variable pathology.
• It highlights the importance of considering atypical neuroimaging patterns in diagnosis.
• The novel genetic finding offers insights into mitochondrial disease mechanisms and potential therapeutic targets.