| Abstrakt: |
Introduction: Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disorder with a frequently reported history of inbreeding. In addition to facial features, associated conditions include congenital heart disease, pancreatic dysfunction, hypothyroidism, hypopituitarism, mental retardation, sensorineural hearing loss. Sensorineural hearing loss occurs in most cases with a structurally normal inner ear. Objectives: To register a case of cochlear implant in a patient with JBS with an anatomical alteration of the inner ear. Resumed report: Female patient, 2 years old, child of a non-consanguineous couple, diagnosed with JBS. An image of the mastoids was performed, which showed cochleovestibular cystic dysplasia, characterized by the absence of modiolus and coalescence of the middle and apical turns. She underwent a left ear cochlear implant on 08/2021. She evolved with left peripheral facial palsy in the immediate postoperative period, and a cycle of corticotherapy was performed with maintenance of House-Brackmann grade II facial palsy. The patient presented a fall from his own height on 09/21 and evolved with an otocerebrospinal fluid leak, which was then submitted to surgical correction. Conclusion: According to the literature, approximately 20% of children with sensorineural hearing loss have radiological abnormalities associated with the temporal bone. Cochlear dysplasia accounts for 30% of these anomalies. The rate of postoperative complications is higher in patients with anomalous inner ear, with a higher risk of meningitis, cerebrospinal fluid fistula, and facial nerve paralysis. Despite this, the functional results achieved by these children are still poorly described. [ABSTRACT FROM AUTHOR] |
