Diffuse leukoencephalopathy: unusual sonographic finding in an infant with mitochondrial disease

Several mitochondrial diseases are known to occasionally involve the cerebral white matter, but in these cases the major findings are involved in the basal ganglia and brainstem. We report a case of diffuse white matter involvement in an infant with mitochondrial disease that was diagnosed via mitochondrial DNA analysis. Mitochondrial disease should be considered in the diagnosis of diffuse leukoencephalopathy in infancy.