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Diseases

Genetic and Rare Diseases Information Center (GARD)

Leigh syndrome


Other Names for this Disease
  • LS
  • Subacute necrotizing encephalopathy
  • SNE
  • Necrotizing encephalopathy infantile subacute of Leigh
  • Leigh's necrotizing encephalopathy
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Tests & Diagnosis

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How is Leigh syndrome diagnosed?

Rahman et al (1996) defined the following stringent diagnostic criteria for Leigh syndrome [1]:
  • Progressive neurologic disease with motor and intellectual developmental delay
  • Signs and symptoms of brainstem and/or basal ganglia disease
  • Raised lactate concentration in blood and/or cerebrospinal fluid (CSF)
  • One or more of the following:
    • Characteristic features of Leigh syndrome on neuroradioimaging (i.e., bilateral symmetric hypodensities [low density areas] in the basal ganglia on CT scan or bilateral symmetrical hyperintense [strong] signal abnormality in the brainstem and/or basal ganglia on T2-weighted MRI)
    • Typical neuropathologic changes: multiple focal symmetric lesions in the basal ganglia, thalamus, brainstem, dentate nuclei, and optic nerves (click here to learn about the different parts of the nervous system that might be affected)
    • Typical neuropathology in a similarly affected sibling
Last updated: 12/10/2008

References
  1. Thronburn DR, Rahman S. . Mitochondrial DNA-Associated Leigh Syndrome and NARP. GeneReviews. 2003; http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=narp. Accessed 1/31/2008.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.
Other Names for this Disease
  • LS
  • Subacute necrotizing encephalopathy
  • SNE
  • Necrotizing encephalopathy infantile subacute of Leigh
  • Leigh's necrotizing encephalopathy
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.