• Ayane Ohyama-Tamagake, Kimihiko Kaneko, Ryo Itami, Masatsugu Nakano, Yasuhiro Namioka, Rumiko Izumi, Haruka Sato, Hideaki Suzuki, Atsuhito Takeda, Yasushi Okazaki, Yukiko Yatsuka, Takaaki Abe, Kei Murayama, Naoto Sugeno, Tatsuro Misu, and Masashi Aoki.
• Department of Neurology, Tohoku University Hospital, Japan.
• Intern. Med. 2023 Jul 1; 62 (13): 199519981995-1998.

AbstractA 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.

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