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.