Leigh syndrome


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

Patient Data

Age: 12 years
Gender: Female

 Gray / white matter loss discreetly.


Bilateral lesions in the basal ganglia, symmetrical, hyperintense in different sequences.

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

Case Discussion

Leigh syndrome was first described by the British psychiatrist and neuropathologist Dennis Archibald Leigh in 1951. 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 include hypotonia, psychomotor regression, ataxia, ocular movement abnormalities, seizures, dystonia, swallowing dysfunction, and respiratory disturbances. the image classic of the disease are symmetrical lesions in the basal ganglia or brain stem on MRI, and a clinical course with rapid deterioration of cognitive and motor functions.

Diagnostic tests for Leigh syndrome patients include magnetic resonance imaging; 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 for detecting the concentration of lactate is very important.

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Case information

rID: 33908
Published: 24th Feb 2015
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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