Leigh syndrome

Discussion:

Leigh syndrome was first described by the British psychiatrist and neuropathologist Dennis Archibald Leigh in 1951. It is a neurodegenerative disease, typically manifesting in infancy or early childhood, it is a subacute necrotizing encephalomyelopathy. Symptoms usually emerge in the first few years of life. The symptoms and signs include hypotonia, psychomotor regression, ataxia, ocular movement abnormalities, seizures, dystonia, swallowing dysfunction, and respiratory disturbances. The classic imaging findings of the disease are symmetrical lesions in the basal ganglia or brainstem on MRI, mirrored by a clinical course with rapid deterioration of cognitive and motor functions.

Diagnostic tests for Leigh syndrome patients include MRI; lactate and pyruvate levels from plasma, cerebrospinal fluid, mitochondrial morphology from tissue biopsy; and mitochondrial gene analysis. Advances in technology of neuroimaging, including magnetic resonance spectroscopy (MRS) for detecting the concentration of lactate is very important.

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