{Reference Type}: Case Reports
{Title}: Cochleovestibular Phenotype in a Rare Genetic MED13L Mutation.
{Author}: Shahid M;Ahmed M;Avula S;Dasgupta S;
{Journal}: J Int Adv Otol
{Volume}: 20
{Issue}: 1
{Year}: 2024 Jan
{Factor}: 1.316
{DOI}: 10.5152/iao.2024.231284
{Abstract}: The gene MED13 participates in transcription. The MED13L gene is a paralog of MED13 that is involved in developmental gene expression. Mutations in the gene have been shown to result in a heterogenous phenotype affecting several physiological systems. Hearing loss has been reported very rarely, and vestibular weakness has never been reported in the condition. In this report, we present a mutation of MED13L in c.1162A > T (p.Arg388Ter), where we detail and describe a cochleovestibular phenotype with objective vestibulometry for the first time. The child showed bilateral sloping sensorineural hearing loss, a bilateral vestibular weakness, and an inner ear vestibular structural abnormality on imaging. Early intervention with hearing aids and vestibular rehabilitation led to a favorable outcome in terms of speech, communication, and balance. We emphasize the importance of comprehensive audiovestibular assessment in children diagnosed with MED13L mutations for effective management of these children.