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Leigh disease (subacute necrotizing encephalomyelopathy): MR documentation of the evolution of an acute attack

J M Heckmann1, R Eastman, L Handler

  • 1Neurology Unit, Groote Schuur Hospital, Cape, South Africa.

Insights

Leigh disease brain MRI shows early lesions resolve while new ones emerge. Characteristic changes occur in the brain stem tegmentum throughout the illness.

Area of Science:

  • Neurology
  • Radiology
  • Pediatric Neurology

Background:

  • Leigh disease is a severe neurological disorder.
  • Understanding its neuroimaging patterns is crucial for diagnosis and management.

Observation:

  • Sequential brain MRI scans were performed on patients with Leigh disease during acute, subacute (3 weeks), and chronic (3 months) phases.
  • T2-weighted images revealed transient high-signal-intensity lesions in the acute phase.

Findings:

  • Acute lesions resolved by 3 months, with new lesions appearing in the chronic stage.
  • Putaminal involvement was not a specific diagnostic marker.
  • Characteristic MRI findings included involvement of the brain stem tegmentum, especially the mesencephalon, in both early and late disease phases.

Implications:

  • This study clarifies the dynamic radiologic evolution of Leigh disease on MRI.
  • Identifying characteristic brain stem involvement aids in early diagnosis and monitoring.
  • The findings contribute to a better understanding of the disease's progression and neuroanatomical changes.

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