Leigh syndrome associated with mitochondrial DNA 8993 T → G mutation and ragged-red fibers

We report a 6-month-old girl with episodic hyperventilation, myoclonus, disturbed consciousness, and lactic acidosis. Brain sonogram revealed progressive ventriculomegaly, and MRI showed symmetric low densities over the putamen bilaterally with diffuse cortical cystic lesions. Ragged-red fibers were noted in the muscle biopsy. Molecular analysis revealed a heteroplasmic T → G mutation at nucleotide position (np) 8993 of mitochondrial DNA (mtDNA). The proportion of the mutant mtDNA in the muscle of the proband was estimated to be 86%. Her mother and maternal uncle also harbored the same mutant mtDNA (54 and 48% in their leukocytes, respectively). One of her sisters carried 64% mutant mtDNA in her leukocytes, but another sister did not. These results suggest that this mutant mtDNA is transmitted through the maternal lineage in this family in a randomly segregated manner. To our knowledge, this is the first report of a Chinese patient with Leigh syndrome associated with the T → G substitution at np 8993 of mtDNA.