RT Journal Article SR Electronic T1 Improvement of SLC29A3 spectrum disorder-related sensorineural hearing loss after initiation of IL-6 inhibitor JF BMJ Case Reports JO BMJ Case Reports FD BMJ Publishing Group Ltd SP e249191 DO 10.1136/bcr-2022-249191 VO 15 IS 6 A1 Gunderman, Lauren M A1 Valika, Taher A1 Carol, Hallie A1 Khojah, Amer YR 2022 UL http://casereports.bmj.com/content/15/6/e249191.abstract AB Tocilizumab is reported to reduce systemic inflammation in individuals with SLC29A3 spectrum disorder, but its effect on hearing loss has not been described. The authors present a boy toddler with a history of prematurity, dysphagia, hypersplenism, hyperpigmentation, short height and hearing loss who was referred to the immunology clinic. He initially presented shortly after birth with abnormal hearing screens followed by positive urine test for cytomegalovirus. However, the infection was determined to be postnatally acquired and hearing loss most likely from genetic causes given a family history of hearing loss and consanguinity. A pathogenic variant in SLC29A3 was found on whole-exome sequencing and given concern for SLC29A3 spectrum disorder, steroids were started. Following concerns for development of side effects with chronic steroid use, he was switched to interleukin 6 inhibitor therapy. The patient’s inflammatory markers decreased on tocilizumab, and his sensorineural hearing loss was notable for improvement and stabilisation on therapy.