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Leigh syndrome: MRI findings in two children

Al Kartikasalwah1, Ngu Lh

  • 1Department of Diagnostic Imaging, Kuala Lumpur Hospital, Kuala Lumpur, Malaysia.

Biomedical Imaging and Intervention Journal
|May 26, 2011
PubMed

Insights

Leigh syndrome, a childhood neurodegenerative disorder, is diagnosed by characteristic MRI findings of symmetrical brain lesions. Recognizing this pattern aids early detection and investigation of its diverse genetic causes.

Area of Science:

  • Neurology
  • Pediatrics
  • Radiology

Background:

  • Leigh syndrome is a severe, progressive neurodegenerative disorder affecting infants and children.
  • It is characterized by specific pathological changes in the central nervous system.

Observation:

  • Characteristic neuroimaging findings include symmetrical necrotic lesions in the basal ganglia and/or brainstem.
  • These lesions appear as hyperintense signals on T2-weighted Magnetic Resonance Imaging (MRI).
  • This MR imaging pattern is a key diagnostic criterion.

Findings:

  • The study presents two cases of Leigh syndrome with distinct biochemical/genetic defects.
  • Subtle differences in their MR neuroimaging features are discussed.
  • The characteristic MRI findings are essential for prompting further investigation.

Implications:

  • Recognizing the specific MRI pattern in children with neurological issues is crucial for timely diagnosis of Leigh syndrome.
  • Early diagnosis facilitates prompt investigation into the underlying genetic or biochemical causes.
  • Understanding imaging variations can aid in differential diagnosis and management planning.
Keywords:
Leigh syndromeMRISURF1mitochondrial

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