Leigh syndrome

Case contributed by Roberto Javier Carrales Cuellar
Diagnosis certain


Headache, nausea and vomiting, decreased strength of distal to proximal, hearing loss and decreased visual acuity

Patient Data

Age: 12 years
Gender: Female

 Gray and white matter loss discreetly.


Symmetrical and bilateral hyperintense lesions in the basal ganglia on FLAIR/T2. No evidence hemosiderin deposition or calcifications on gradient echo.

Restriction of DWI signal and reduced ADC values in the splenium and between the putamen and globus pallidum. 

Univoxel spectroscopy shows lactate peak (non-specific finding).

The diagnosis was confirmed by muscle biopsy (deltoid). Complex IV (cytochrome c oxidase): 128 nmol/min/mg (range 150-450 nmol/min/mg).

Case 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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