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Atypical presentations of leigh syndrome: a case series and review

Richard J Huntsman1, D Barry Sinclair, Ravi Bhargava

  • 1Department of Pediatric Neurology, University of Alberta, Edmonton, Alberta, Canada.

Pediatric Neurology
|May 4, 2005
PubMed

Insights

Leigh syndrome (LS) can present atypically, affecting various neuroaxis levels. Clinicians should recognize these diverse presentations, including spinal cord and brainstem involvement, for accurate diagnosis.

Area of Science:

  • Neuroscience
  • Genetics
  • Pediatric Neurology

Background:

  • Leigh syndrome typically manifests in early childhood with developmental regression, ataxia, and hypotonia.
  • Classic Leigh syndrome involves brainstem and/or basal ganglia dysfunction.

Observation:

  • This case series details five patients with Leigh syndrome exhibiting atypical clinical presentations.
  • Presentations included progressive limb weakness mimicking Guillain-Barre syndrome, central respiratory failure, encephalopathy, progressive diplegia, apnea, hypotonia, blindness, and seizures.
  • Spinal cord involvement was noted in four of the five patients via MRI.

Findings:

  • Leigh syndrome can present with diverse neurological symptoms beyond typical childhood onset.
  • The neuroaxis, including the spinal cord and brainstem, can be affected, leading to varied clinical manifestations.
  • Atypical presentations underscore the importance of considering Leigh syndrome in a broader differential diagnosis.

Implications:

  • Clinicians must be aware of the wide spectrum of Leigh syndrome presentations.
  • Diagnostic evaluation for Leigh syndrome should include assessment for spinal cord and brainstem involvement.
  • Recognizing atypical Leigh syndrome variants is crucial for timely diagnosis and management.

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