Leigh Syndrome After in Vitro Fertilization (IVF)

Mitochondrial diseases are sporadic and very serious. The causes of these diseases are the mutations of the mitochondrial(mt) DNA (deoxyribonucleic acid) which is of maternal origin. The phenotypic variability of mitochondrial disease is determined by the simultaneous presence of normal and mutant mt DNA in the cytoplasm, a process called heteroplasmy. We present a case of Leigh syndrome in a twin pregnancy after in vitro fertilization (IVF). The two-month-old infant extracted by cesarean section at thirty-eight weeks of gestation was admitted to the hospital for worsening respiratory symptoms. The symptoms had started seven days before with fever and difficulty breathing; marked metabolic acidosis was discovered at the lumbar puncture that was done at admission in the hospital. We sent the patient to genetic testing due to congenital lactic acidosis. Leigh syndrome was strongly suspected. First, he had the sequencing analysis of the genes in Leigh syndrome and mitochondrial encephalopathy panel and a heterozygous variant of uncertain significance in the COQ8A gene, also known as ADCK3, c.521C>A p was found (Thr174Lys). Unfortunately, the infant died in the hospital due to cardiorespiratory arrest. The parents are now considering having another IVF procedure, and we are discussing all the possible variants with them.