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

Ayane Ohyama-Tamagake1, Kimihiko Kaneko1, Ryo Itami2

  • 1Department of Neurology, Tohoku University Hospital, Japan.

Internal Medicine (Tokyo, Japan)
|December 21, 2022
PubMed

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 nucleus 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.

Keywords:
Leigh syndromemitochondrial diseasereversible cerebral vasoconstriction syndromethunderclap headache

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