Adult Leigh syndrome with mitochondrial DNA mutation at 8993

Adult onset Leigh syndrome with a nucleotide (nt) 8993 mutation in mitochon drial (mt) DNA is reported. A 43-year-old woman with a 6-year-history of in sulin-resistant diabetes mellitus developed muscular weakness, intractable nausea and vomiting, and anemia. These were followed vertigo, blindness, an d deafness with nystagmus. Magnetic resonance imaging (MRI) revealed abnorm al high intensities in the bilateral medial regions of the thalamus and per iaqueductal gray matters. Autopsy disclosed well-demarcated necrotizing les ions with prominent capillaries in the areas detected by MRI, which were su fficiently diagnostic for Leigh syndrome. MtDNA analysis performed on DNAs extracted from formalin-fixed tissues including liver, heart, brain, muscle , kidney and pancreas showed a T-->G mutation at nt 8993. This is the first case of adult Leigh syndrome demonstrating on mtDNA mutations.