The etiology and underlying mechanism of
Meniere's disease (MD) development are still unknown, although
inflammation and autoimmunity have been implicated as underlying mechanisms. The human endolymphatic sac (ES) has been reported to have innate and adaptive immune capacity in local immune reactions. In vivo demonstration of
inflammation of the ES in patients with MD is missing in the literature. We report the case of a 47-year-old female patient diagnosed with unilateral MD with genetic variants and
cytokine markers indicating
inflammation and vascular congestion of the ES.
Endolymphatic hydrops in the right cochlea (grade 2) and vestibulum (grade 3) were detected using MRI. She carried heterozygous variants in MEFV (c.442G > C), IRF8 (c.1157G > T), ADA (c.445C > T), PEPD (c.151G > A), NBAS (c.4049T > C), CSF2RB (c.2222C > T), HPS6 (c.277G > T), IL2RB (c.1109C > T), IL12RB1 (c.1384G > T), IL17RC (c.260_271del GCAAGAGC TGGG), LIG1 (c.746G > A), RAG1 (c.650C > A), and SLX4 (c.1258G > C, c.5072A > G). In the serum, the levels of
granulocyte colony-stimulating factor (
G-CSF),
macrophage inflammatory protein 1α, and
IL7 were significantly elevated, and the level of IL2Rα was reduced. Intratympanic administration of
dexamethasone temporarily alleviated her
hearing loss. Her
vertigo was significantly relieved but remained slight after ES administration of
corticosteroids.