New Diagnosis of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Following First Live Birth in a Woman With an MT-TL1 m.3260A>T Mutation

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare mitochondrial disorder characterized by multisystem involvement.Clinical manifestations are usually present in childhood.Here, we present the case of a 23-year-old woman who was newly diagnosed with MELAS approximately eight months following her first live birth.Serial laboratory evaluation demonstrated fluctuations in serum lactate, with generally higher values during the daytime and lower values overnight and in the early morning, despite maintenance of a normal pH with sodium bicarbonate supplementation.During the transition from intravenous to oral sodium bicarbonate, management was focused on normal acid-base status rather than normalization of lactate, which continued to fluctuate.Once the patient was stabilized on an oral regimen of sodium bicarbonate, she was discharged home.This case highlights an uncommon diagnosis of MELAS following a first live birth.Additionally, observed cyclic changes and persistent elevation of lactate despite clinical improvement suggest that acid-base status and overall clinical condition may serve as useful adjunctive measures in assessing metabolic stabilization in patients with MELAS.