Conclusion
Our findings indicated that various symptoms and clinical features can be found in Leigh syndrome which could be probably due to different mutations in mitochondrial genes. Therefore, appropriate clinical and laboratory settings along with brain MRI, MRS and genetic test analysis would be necessary for the early diagnosis. Our patient was born from parents with consanguineous marriage, which highlighted the possible relationship between familial marriage and incidence of Leigh syndrome. Since consanguineous marriage is popular in Iran, premarital genetic counseling and education may be helpful.