PROTON SPECTROSCOPY IN 5 PATIENTS WITH LEIGHS DISEASE AND MITOCHONDRIAL ENZYME DEFICIENCY

Five children with Leigh's disease and progressive neurological sympto ms were compared with 14 control children. In all patients, MRI showed bilateral lesions of the putamina and caudate heads. Serum lactate wa s normal for four of the children, and CSF lactate slightly elevated f or three. Volume-selective proton MR spectroscopy (H-1-MRS) of the bas al ganglia in the Leigh patients revealed elevated lactate, giving fur ther evidence for a defect of energy metabolism in the brain. H-1-MRS is an important tool for non-invasive brain tissue analysis in Leigh's disease, particularly in the absence of peripheral lactate elevation.