Identifying NDUFA12 mutation in a Saudi family: An unusual presentation of mitochondrial Complex I deficiency mimicking as idiopathic intracranial hypertension in a patient with papilledema and visual loss

Abstract Mitochondrial diseases are considered one of the most common groups of neurogenetic diseases. Complex I (CI) deficiency is the most encountered single enzyme deficiency of the mitochondrial diseases. The mutation of the NDUFA is linked to Leigh syndrome and CI defects. This article reports on a patient with mutation in NDUFA12 that was initially perceived as idiopathic intracranial hypertension, calling attention to the importance of considering NDUFA12 mutations in optic atrophy and dystonia diagnoses, particularly in young patients with new onset headache and progressive bilateral visual impairment. In addition, it emphasizes the need to explore other nonneurological features in diagnosing mitochondrial disease in those who do not fit into a defined syndrome. Further research on NDUFA12 variants is essential for a better understanding of their wide phenotypic spectrum.