Sensorineural hearing loss and pyruvate dehydrogenase deficiency syndrome: Implications for cochlear implantation

SummaryThe pyruvate dehydrogenase (PDH) complex is an enzyme involved in the conversion of pyruvate to acetyl coenzyme A, an important and irreversible step in glycolysis. A deficiency in pyruvate dehydrogenase is a well defined but rare genetic defect of metabolism that is characterized by lactic acidosis. Variability exists in clinical presentation, radiographic imaging, and enzyme activity. We present a case of pyruvate dehydrogenase deficiency syndrome in which profound sensorineural hearing loss and internal auditory canal abnormalities were also found. We highlight the findings on auditory brainstem response (ABR) and radiographic studies and discuss the implications for cochlear implantation.