We report an unusual complication of stapedectomy called <
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Clinical and Molecular Aspects Associated with Defects in the Transcription Factor POU3F4: A Review.
Biomedicines
June 2023
Institute of Pharmacology and Toxicology, Paracelsus Medical University, 5020 Salzburg, Austria.
X-linked deafness (DFNX) is estimated to account for up to 2% of cases of hereditary hearing loss and occurs in both syndromic and non-syndromic forms. is the gene most commonly associated with X-linked deafness (DFNX2, DFN3) and accounts for about 50% of the cases of X-linked non-syndromic hearing loss. This gene codes for a transcription factor of the POU family that plays a major role in the development of the middle and inner ear.
View Article and Find Full Text PDFCerebrospinal Fluid Leak During Stapes Surgery: The Importance of Temporal Bone CT Reconstructions in Oblique Anatomically Oriented Planes.
Ear Nose Throat J
April 2023
Department of Surgical, Medical and Molecular Pathology, ENT Unit I, University of Pisa, Pisa, Italy.
Stapes gusher is a massive flow of perilymph and cerebrospinal fluid leak that fills the middle ear immediately after surgical opening of the labyrinth, such as during stapedectomy. Stapes gusher usually occurs as the result of a congenital malformation that causes an abnormal communication between the perilymphatic space and the subarachnoid space involving the internal auditory canal or the cochlear duct. To date, the potential risk of stapes gusher cannot be assessed preoperatively, as there are not pathognomonic signs suggestive of this complication.
View Article and Find Full Text PDFThe role of computed tomography and magnetic resonance imaging for preoperative pediatric cochlear implantation work-up in academic institutions.
Cochlear Implants Int
March 2021
Department of Pediatric Otolaryngology, Rady Children's Hospital San Diego, San Diego, CA, USA.
Objective: The goal of the study is to investigate the association of pertinent preoperative temporal bone computed tomography (CT) and brain magnetic resonance imaging (MRI) results and intraoperative surgical findings and complications of pediatric cochlear implantation reported in academic settings.
Methods: This is a retrospective review of cochlear implant patients who received a pre-operative temporal bone CT and MRI of the brain between 2005 and 2012 at academic pediatric otolaryngology practices within children's hospitals in the United States and France. Scans were reviewed in a double-blind fashion and compared to intraoperative findings.
A Case Series of X-Linked Deafness-2 with Sensorineural Hearing Loss, Stapes Fixation, and Perilymphatic Gusher: MR Imaging and Clinical Features of Hypothalamic Malformations.
AJNR Am J Neuroradiol
June 2020
From the Departments of Radiology (J.-A.P.M., K.P.).
X-linked deafness-2 (DFNX2) is an X-linked recessive disorder characterized by profound sensorineural hearing loss and a pathognomonic temporal bone deformity. Because hypothalamic malformations associated with DFNX2 have been rarely described, we aimed to further describe these lesions and compare them with features of a nonaffected population. All patients diagnosed with DFNX2 between 2006 and 2019 were included and compared with age-matched patients with normal MR imaging findings and without hypothalamic dysfunction.
View Article and Find Full Text PDFSensorineural Hearing Loss in the Nonimplanted Ear Following Cochlear Implantation in a Patient With Bilateral Enlarged Vestibular Aqueducts.
Otol Neurotol
September 2019
Department of Otolaryngology-Head and Neck Surgery, Stanford University School of Medicine.
Objective: To document the case of a patient with bilateral enlarged vestibular aqueducts who experienced sensorineural hearing loss in the nonimplanted ear following unilateral cochlear implantation complicated by perilymph gusher requiring lumbar drain insertion and to highlight the need to counsel regarding the risk of potential hearing loss to the contralateral ear when preparing for cochlear implants in the setting of inner ear malformations.
Patients: One patient with bilateral enlarged vestibular aqueducts in a tertiary referral center.
Intervention(s): Cochlear implantation complicated by perilymph gusher requiring lumbar drain insertion.
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