Cochlear implantation of a child with Townes-Brocks Syndrome in Tanzania: a case report

Abstract Background Townes-Brocks Syndrome (TBS), an autosomal dominant disorder, is known to cause hearing loss amongst other expressions including anomalies that affect the external ear, hands, feet, anus, and kidneys. Case presentation This report describes a case of a four-year-old male of Iranian origin with TBS diagnosed with bilateral profound sensorineural hearing loss who underwent unilateral cochlear implantation in Tanzania. Along with sensorineural hearing loss, the child has dysplastic external ears, ulnar deviation of the thumbs, and overlapping toes. Radiological evaluation revealed cochlear hypoplasia with an enlarged vestibular aqueduct. This is the first known published case of TBS with a cochlear implant in East Africa and details the child’s history, audiological findings, surgical procedure, and post-surgical outcomes. The patient has shown a remarkable increase in Infant–Toddler Meaningful Auditory Integration Scale (IT-MAIS) scores and aided sound-field thresholds at 3 months and 6 months post-switch on. Conclusion This case advocates for encouraging intervention via cochlear implantation and increased awareness of such syndromes. It also adds to the literature on TBS, and its relation to sensorineural hearing loss and inner ear malformations.