BACKGROUND: Usher syndrome (USH) is an autosomal recessive disorder primarily responsible for deaf-blindness. Patients with subtype Usher syndrome type 1 (USH1) typically experience congenital sensorineural hearing loss, abnormal vestibular function, and retinitis pigmentosa (RP). Here we present a case of Usher syndrome type 1F (USH1F) with a novel homozygous variant in the calcium-dependent cell-cell adhesion protocadherin-15 (PCDH15) gene.
METHODS: Ophthalmic examinations were evaluated over a course of 10 years and the disease-causing variant was identified by whole exome sequencing (WES). Initial and follow-up examination of color fundus photos after 10 years revealed an increase in bone spicule pigment deposits in both eyes. A parafoveal hyper-AF ring in both eyes was shown in fundus autofluorescence (FAF) with a progressive diameter-wise constriction observed over 8 years. Outer nuclear layer (ONL) loss was observed in parafoveal and perifoveal regions of both eyes on spectral domain-optical coherence tomography (SD-OCT). Full-field electroretinography (ffERG) showed extinguished global retinal function. WES identified a novel two-base-pair deletion, c.60_61del (p.Phe21Ter), in the PCDH15 gene, confirming the diagnosis of USH1F.
CONCLUSIONS: We report a novel homozygous PCDH15 pathogenic variant expected to lead to nonsense-mediated decay (NMD) of PCDH15 mRNA. The patient exhibits a loss of function with USH1F, experiencing congenital hearing loss and syndromic RP.

Neurenteric cysts are rare, developmental malformations mainly found in the spinal canal. The authors report on a 29-year-old woman who presented with congenital left-sided hearing loss and a 9 days history of left ear pain and facial weakness (House-Brackmann IV). Radiological examination revealed a complex 7 mm cystic structure involving the petrous and mastoid portions of the left temporal bone. Intraoperatively, a red-brown multicystic mass was discovered and excised completely. Histologic findings showed simple columnar epithelium with goblet cells and bilayers of submucosal musculature, resembling normal intestinal linings. Post resection, the patient regained nearly full facial nerve capabilities (House-Brackmann II) with complete resolution of pain, but no changes to her hearing. The objectives of this case report are to describe the clinical, radiologic, intraoperative, and pathologic characteristics of an extradural temporal neurenteric cyst with sensorineural deficits to contribute to the growing knowledge regarding this rare entity.

BACKGROUND: Stapedial tendon ossification is a rare disease, with only a few reports. The stapedial tendon originates from the apex of the pyramidal eminence and is attached to the neck of the stapes. In stapedial tendon ossification, the stapes is fixed, causing conductive hearing loss. In most cases, complete hearing restoration is achieved by dividing the stapedial tendon after exploratory tympanotomy.
METHODS: A 28-year-old woman presented to our hospital with the major complaint of bilateral hearing loss that started during childhood. Exploratory tympanotomy was performed due to suspicion of otosclerosis or middle ear anomalies. We found bilateral conductive hearing loss due to stapedial tendon ossification with a middle ear anomaly during surgery. There have been several reports of complete recovery of hearing after resection of the stapedial tendon. However, in this case, recovery of hearing was insufficient, even with the division of the stapedial tendon. In the second surgery, the stapes anomaly and footplate fixation were confirmed, and hearing was completely recovered after stapedotomy. Therefore, we report this case with a review of the relevant literature.
CONCLUSIONS: This is the first case of stapedial tendon ossification and fixation of the footplate surgically diagnosed on both sides. With surgical treatment, successful results are expected.

BACKGROUND: Salivary gland choristoma (SGCh) is a rare benign tumor reported in several unusual sites, such as the gastrointestinal tract, the optic nerve, and the internal auditory canal, but never reported in the inner ear.
METHODS: An 8-year-old girl with a history of left profound congenital hearing loss presented to us with ipsilateral progressive severe facial nerve palsy (House-Brackmann Grade VI). The left tympanic membrane was swollen with a pulsatile tumor. Radiological investigations revealed a multilocular tumor in the inner ear extending into the middle ear and internal auditory canal (IAC). We performed a partial resection of the tumor by transmastoid approach to preserve the anatomical structure of the facial nerve. The tumor was pathologically diagnosed as SGCh. Two years after surgery, her facial function recovered to House-Brackmann Grade II and the residual tumor did not show regrowth on MRI.
CONCLUSIONS: Although the natural course of this rare tumor is unknown, a partial resection is an acceptable treatment procedure when functional recovery of the facial nerve is anticipated.

Hearing loss (HL) represents the most common congenital sensory impairment with an incidence of 1-5 per 1000 live births. Non-syndromic hearing loss (NSHL) is an isolated finding that is not part of any other disorder accounting for 70% of all genetic hearing loss cases.
In the current study, we reported a polygenic mode of inheritance in an NSHL consanguineous family using exome sequencing technology and we evaluated the possible effect of the detected single nucleotide variants (SNVs) using in silico methods.
Two bi-allelic SNVs were detected in the affected patients; a MYO15A (. p.V485A) variant, and a novel MITF (p.P338L) variant. Along with these homozygous mutations, we detected two heterozygous variants in well described hearing loss genes (MYO7A and MYH14). The novel MITF p. Pro338Leu missense mutation was predicted to change the protein structure and function.
A novel MITF mutation along with a previously described MYO15A mutation segregate with an autosomal recessive non-syndromic HL case with a post-lingual onset. The findings highlight the importance of carrying whole exome sequencing for a comprehensive assessment of HL genetic heterogeneity.

UNASSIGNED: Antioxidants have been used as a therapeutic measure for several causes of hearing loss, and this study aims to examine the use of antioxidants in children with congenital cytomegalovirus (cCMV)-related hearing loss.
UNASSIGNED: Case-control study.
UNASSIGNED: Academic pediatric hospital.
UNASSIGNED: A retrospective chart review of pediatric patients with cCMV-related hearing loss treated with and without antioxidants (vitamins A, C, and E and magnesium, known as ACE-Mg) was completed. The primary end point was the mean change in hearing thresholds for the right and left ears after therapy. An evaluation of the mean change in thresholds was evaluated at the following frequencies: 500 Hz, 1000 Hz, 2000 Hz, and 4000 Hz. A 2-sample t test and multiple linear regression were used to evaluate the data.
UNASSIGNED: A total of 78 children with cCMV-related hearing loss were included in the study, of whom 10 were treated with antioxidants. The average amount of time in which antioxidants were taken was 387 days. When comparing cases and controls, there was no differences in the mean change of hearing thresholds at each frequency for both the right and left ears (P > .05). Length of antioxidant therapy and age at which therapy was initiated had no effect on hearing scores (P > .05).
UNASSIGNED: Oxidative stress plays a role in the pathogenesis of cCMV-related hearing loss. ACE-Mg is a safe adjuvant therapy for the treatment of hearing loss in children; however, this study demonstrates no hearing-related benefit from ACE-Mg antioxidant therapy.

The case of a 17-year-old patient with progressive unilateral sensorineural hearing loss and temporal bone malformations concerning for internal auditory canal meningocele with translabyrinthine/perilabyrinthine cerebrospinal fluid fistula is presented with associated computed tomography and magnetic resonance imaging. As the second reported case of an unruptured internal auditory canal meningocele with translabyrinthine/perilabyrinthine fistula, the case presents several clinically relevant points for otologists, neurotologists, and neuroradiologists. Although rare, it is an additional entity to consider as a cause of unilateral sensorineural hearing loss and may pose a risk for developing meningitis and possible \"gushing\" of cerebrospinal fluid should surgical intervention be attempted. Laryngoscope, 126:1931-1934, 2016.