p Adult-onset Leigh Syndrome with a m.9176T>C Mutation Manifested As Reversible Cerebral Vasoconstriction Syndrome

A 26-year-old woman developed a sudden headache, ptosis, and diplopia. Magnetic resonance imaging and angiography demonstrated a symmetrical lesion from the midbrain to the brainstem, involving the solitary nu-cleus and multifocal cerebral artery narrowing. Reversible cerebral vasoconstriction syndrome (RCVS) was suspected, and the patient improved after vasodilatation. Leigh syndrome was suspected due to the elevated serum pyruvate level, so mitochondrial DNA was analyzed, and an m.9176T>C mutation was detected. The final diagnosis was adult-onset Leigh syndrome manifesting as RCVS. An uncontrolled baroreflex due to a solitary nuclear lesion or endothelial dysfunction may have contributed to her unique presentation.

Automated summary

A 26-year-old woman presented with sudden headache, ptosis, and diplopia. Imaging studies revealed a symmetrical lesion involving the midbrain, brainstem, solitary nucleus, and cerebral arteries. Suspected reversible cerebral vasoconstriction syndrome (RCVS) was successfully treated with vasodilatation. Further investigation showed an m.9176T>C mutation, confirming the diagnosis of adult-onset Leigh syndrome presenting as RCVS. Solitary nuclear lesion or endothelial dysfunction might have contributed to her unique symptoms.