Leigh’s Disease

            Leigh's Disease (subacute necrotizing encephalomyelopathy) is a familial disorder with autosomal recessive inheritance. Onset is usually in the first year of life in more than half of cases but occasionally it can present in adulthood. Presenting signs and symptoms range from hypotonia, seizures and myoclonic jerks in the first year of life to ataxia, dysarthria and nystagmus in the second year. Death, most often from respiratory failure, usually occurs before 3 years of age. The exact biochemical defect remains unknown but may involve pyruvate metabolism. Bilaterally symmetric foci of necrosis and spongiform degeneration are noted pathologically. CT has revealed symmetric areas of decreased attenuation in the basal ganglia, brain stem and cerebellum. MR has shown these same lesions as areas of increased T2-signal and has also shown involvement of the tectum, tegmentum and medullary olive in instances when CT has been negative in these areas.

            Leigh’s disease and other mitochondrial encephalopathies, such as MERRF (mitochondrial encephalopathy with red ragged fibers) and MELAS (mitochondrial encephalopathy with lactic acidosis and strokes) show increased brain lactic on proton MR spectroscopy.  

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