Rubinstein-Taybi syndrome and mixed bilateral hypoacousia case report

Otol Neurotol. 2007 Jun;28(4):501-3. doi: 10.1097/MAO.0b013e31803115d4.

Abstract

Objective: To describe a case of Rubinstein-Taybi syndrome (RTS) in association with mixed bilateral hypoacousia.

Patient: A 10-year-old boy presented at a private otology practice center in Bogotá, Colombia, with signs and symptoms of RTS. In addition, the patient presented with mixed bilateral conductive hypoacousia, predominantly in the left ear with a 40- to 50-dB conductive component, caused by middle ear malformations and fixation of the ossicular chain and stapes footplate.

Intervention: The patient underwent a left exploratory tympanotomy and then a stapedotomy.

Main outcome measures: Computed tomography, genetic evaluation, and audiologic testing.

Results: Postoperative recovery was normal. There was closure of the conductive gap (< or =10 dB) with improvement of subjective hearing.

Conclusion: We presented a case of a patient with RTS and bilateral mixed hypoacousia who underwent a stapedotomy with a final improvement in his hearing performance. We consider it important to report and describe the simultaneous presence of these pathologic findings and to be able to analyzeif these otologic findings are coincidental or truly associated with RTS.

Publication types

  • Case Reports

MeSH terms

  • Audiometry, Speech
  • Child
  • Ear Ossicles / abnormalities
  • Ear, Middle / abnormalities
  • Hearing Loss, Bilateral / complications*
  • Hearing Loss, Bilateral / diagnostic imaging
  • Hearing Loss, Bilateral / surgery*
  • Humans
  • Male
  • Rubinstein-Taybi Syndrome / complications*
  • Rubinstein-Taybi Syndrome / diagnostic imaging
  • Stapes / abnormalities
  • Tomography, X-Ray Computed
  • Tympanic Membrane / surgery