Distinguishing between sporadic and germline/mosaic NF2-related schwannomatosis is important to ensure that patients have appropriate long-term care. With this report, we describe a unique case of a ...patient with 4 ipsilateral schwannomas and identify a combination of sequencing modalities that can accurately diagnose mosaic NF2-related schwannomatosis.
We present a 32-year-old woman with a familial history of vestibular schwannoma in her father and right-sided schwannomas involving the apical and basal turns of cochlea, lateral semicircular canal, and internal auditory canal (IAC). Genetic analysis of blood and frozen tissue from 2 tumors (intralabyrinthine and IAC tumors) was performed using next-generation sequencing (NGS), multiplex ligation-dependent probe amplification (MLPA), and optical genome mapping (OGM).
Germline testing for NF2, LZTR1, and SMARCB1 was negative. Tumor genetic testing revealed a shared NF2 pathogenic variant between the 2 tumors ("first hit") but distinct "second hit" NF2 variants, including mosaic loss of chromosome 22 in the IAC tumor seen only with OGM, consistent with mosaic NF2-related schwannomatosis.
Multimodality sequencing, including NGS, MLPA, and OGM, was required to ensure appropriate diagnosis of mosaic NF2-related schwannomatosis in this patient. A similar approach can be used for other patients with multiple ipsilateral tumors and suspected tumor predisposition.
Clinical practice guideline: tinnitus Tunkel, David E; Bauer, Carol A; Sun, Gordon H ...
Otolaryngology-head and neck surgery,
October 2014, Letnik:
151, Številka:
2 Suppl
Journal Article
Recenzirano
Tinnitus is the perception of sound without an external source. More than 50 million people in the United States have reported experiencing tinnitus, resulting in an estimated prevalence of 10% to ...15% in adults. Despite the high prevalence of tinnitus and its potential significant effect on quality of life, there are no evidence-based, multidisciplinary clinical practice guidelines to assist clinicians with management. The focus of this guideline is on tinnitus that is both bothersome and persistent (lasting 6 months or longer), which often negatively affects the patient's quality of life. The target audience for the guideline is any clinician, including nonphysicians, involved in managing patients with tinnitus. The target patient population is limited to adults (18 years and older) with primary tinnitus that is persistent and bothersome.
The purpose of this guideline is to provide evidence-based recommendations for clinicians managing patients with tinnitus. This guideline provides clinicians with a logical framework to improve patient care and mitigate the personal and social effects of persistent, bothersome tinnitus. It will discuss the evaluation of patients with tinnitus, including selection and timing of diagnostic testing and specialty referral to identify potential underlying treatable pathology. It will then focus on the evaluation and treatment of patients with persistent primary tinnitus, with recommendations to guide the evaluation and measurement of the effect of tinnitus and to determine the most appropriate interventions to improve symptoms and quality of life for tinnitus sufferers.
The development group made a strong recommendation that clinicians distinguish patients with bothersome tinnitus from patients with nonbothersome tinnitus. The development group made a strong recommendation against obtaining imaging studies of the head and neck in patients with tinnitus, specifically to evaluate tinnitus that does not localize to 1 ear, is nonpulsatile, and is not associated with focal neurologic abnormalities or an asymmetric hearing loss. The panel made the following recommendations: Clinicians should (a) perform a targeted history and physical examination at the initial evaluation of a patient with presumed primary tinnitus to identify conditions that if promptly identified and managed may relieve tinnitus; (b) obtain a prompt, comprehensive audiologic examination in patients with tinnitus that is unilateral, persistent (≥ 6 months), or associated with hearing difficulties; (c) distinguish patients with bothersome tinnitus of recent onset from those with persistent symptoms (≥ 6 months) to prioritize intervention and facilitate discussions about natural history and follow-up care; (d) educate patients with persistent, bothersome tinnitus about management strategies; (e) recommend a hearing aid evaluation for patients who have persistent, bothersome tinnitus associated with documented hearing loss; and (f) recommend cognitive behavioral therapy to patients with persistent, bothersome tinnitus. The panel recommended against (a) antidepressants, anticonvulsants, anxiolytics, or intratympanic medications for the routine treatment of patients with persistent, bothersome tinnitus; (b) Ginkgo biloba, melatonin, zinc, or other dietary supplements for treating patients with persistent, bothersome tinnitus; and (c) transcranial magnetic stimulation for the routine treatment of patients with persistent, bothersome tinnitus. The development group provided the following options: Clinicians may (a) obtain an initial comprehensive audiologic examination in patients who present with tinnitus (regardless of laterality, duration, or perceived hearing status); and (b) recommend sound therapy to patients with persistent, bothersome tinnitus. The development group provided no recommendation regarding the effect of acupuncture in patients with persistent, bothersome tinnitus.
Aminoglycosides (AG) are commonly prescribed antibiotics with potent bactericidal activities. One main side effect is permanent sensorineural hearing loss, induced by selective inner ear sensory hair ...cell death. Much work has focused on AG's initiating cell death processes, however, fewer studies exist defining mechanisms of AG uptake by hair cells. The current study investigated two proposed mechanisms of AG transport in mammalian hair cells: mechanotransducer (MET) channels and endocytosis. To study these two mechanisms, rat cochlear explants were cultured as whole organs in gentamicin-containing media. Two-photon imaging of Texas Red conjugated gentamicin (GTTR) uptake into live hair cells was rapid and selective. Hypocalcemia, which increases the open probability of MET channels, increased AG entry into hair cells. Three blockers of MET channels (curare, quinine, and amiloride) significantly reduced GTTR uptake, whereas the endocytosis inhibitor concanavalin A did not. Dynosore quenched the fluorescence of GTTR and could not be tested. Pharmacologic blockade of MET channels with curare or quinine, but not concanavalin A or dynosore, prevented hair cell loss when challenged with gentamicin for up to 96 hours. Taken together, data indicate that the patency of MET channels mediated AG entry into hair cells and its toxicity. Results suggest that limiting permeation of AGs through MET channel or preventing their entry into endolymph are potential therapeutic targets for preventing hair cell death and hearing loss.
The American Academy of Otolaryngology--Head and Neck Surgery Foundation (AAO-HNSF) has published a supplement to this issue featuring the new Clinical Practice Guideline: Tinnitus. To assist in ...implementing the guideline recommendations, this article summarizes the rationale, purpose, and key action statements. The 13 recommendations developed address the evaluation of patients with tinnitus, including selection and timing of diagnostic testing and specialty referral to identify potential underlying treatable pathology. It will then focus on the evaluation and treatment of patients with persistent primary tinnitus, with recommendations to guide the evaluation and measurement of the impact of tinnitus and to determine the most appropriate interventions to improve symptoms and quality of life for tinnitus sufferers.
The object of this study was to evaluate facial nerve outcomes in the surgical treatment of large vestibular schwannomas (VSs; ≥ 2.5 cm maximal or extrameatal cerebellopontine angle diameter) based ...on both the operative approach and extent of tumor resection.
A PubMed search was conducted of English language studies on the treatment of large VSs published from 1985 to 2011. Studies were then evaluated and included if they contained data regarding the size of the tumor, surgical approach, extent of resection, and postoperative facial nerve function.
Of the 536 studies initially screened, 59 full-text articles were assessed for eligibility, and 30 studies were included for analysis. A total of 1688 tumor resections were reported. Surgical approach was reported in 1390 patients and was significantly associated with facial nerve outcome (ϕ= 0.29, p < 0.0001). Good facial nerve outcomes (House-Brackmann Grade I or II) were produced in 62.5% of the 555 translabyrinthine approaches, 65.2% of the 601 retrosigmoid approaches, and 27.4% of the 234 extended translabyrinthine approaches. Facial nerve outcomes from translabyrinthine and retrosigmoid approaches were not significantly different from each other, but both showed significantly more good facial nerve outcomes, compared with the extended translabyrinthine approach (OR for translabyrinthine vs extended translabyrinthine = 4.43, 95% CI 3.17-6.19, p < 0.0001; OR for retrosigmoid vs extended translabyrinthine = 4.98, 95% CI 3.57-6.95, p < 0.0001). There were 471 patients for whom extent of resection was reported. There was a strong and significant association between degree of resection and outcome (ϕ= 0.38, p < 0.0001). Of the 80 patients receiving subtotal resections, 92.5% had good facial nerve outcomes, compared with 74.6% (n = 55) and 47.3% (n = 336) of those who received near-total resections and gross-total resections, respectively. In the 2-way comparison of good versus suboptimal/poor outcomes (House-Brackmann Grade III-VI), subtotal resection was significantly better than near-total resection (OR = 4.21, 95% CI 1.50-11.79; p = 0.004), and near-total resection was significantly better than gross-total resection (OR = 3.26, 95% CI 1.71-6.20; p = 0.0002) in producing better facial nerve outcomes.
In a pooled patient population from studies evaluating the treatment of large VSs, subtotal and near-total resections were shown to produce better facial nerve outcomes when compared with gross-total resections. The translabyrinthine and retrosigmoid surgical approaches are likely to result in similar rates of good facial nerve outcomes. Both of these approaches show better facial nerve outcomes when compared with the extended translabyrinthine approach, which is typically reserved for especially large tumors. The reported literature on treatment of large VSs is extremely heterogeneous and minimal consistency in reporting outcomes was observed.
To present a case of progressive sensorineural hearing loss (SNHL) caused by labyrinthine erosion secondary to expanding geniculate ganglion cerebrospinal fluid (CSF) diverticulum extending along the ...path of the facial nerve.
Thirteen-year-old man with no past medical history or risk factors presented with unilateral progressive SNHL and no other otologic or neurologic symptoms.
Audiological data as well as imaging studies including a magnetic resonance imaging (MRI) of the brain and internal auditory canal and a temporal bone computed tomography (CT) are presented. Partial labyrinthectomy, CSF leak closure, and cochlear implantation were performed. A lumbar puncture was obtained 2 months postoperatively.
Closure of the CSF leak.
Mastoidectomy revealed a wide area of CSF leak through the geniculate ganglion and fallopian canal with partial destruction of the superior and lateral semicircular canals by an expanding diverticulum.
This is an unusual presentation of progressive SNHL due to partial labyrinthine erosion due to a meningocele of the geniculate ganglion along the fallopian canal. It is likely that the patient had a congenital open pathway through the labyrinthine segment of the facial nerve and CSF pulsations created the meningocele over a few years. This case argues for early closure of such CSF diverticula to prevent possible SNHL due to labyrinthine erosion.
To describe a case of facial, vestibular, and cochlear nerve avulsion secondary to blunt trauma without an associated temporal bone fracture.
Clinical capsule report.
University hospital.
A ...3.5-year-old girl presented with immediate facial nerve paralysis and complete deafness after being struck by an automobile. High-resolution computed tomography demonstrated a depressed occipital bone fracture with no visible fracture of the temporal bone. Magnetic resonance imaging sequence raised the question of VIIth nerve bundle discontinuity at the distal end of the internal auditory canal.
The patient underwent a posterior fossa craniotomy via a translabyrinthine approach 9 months after the initial injury, and facial and auditory nerve avulsion at the fundus was confirmed at the time of surgery. The proximal segment of the facial nerve had formed a traumatic neuroma, which was resected, and primarily anastomosed to the rerouted distal segment.
Facial nerve function.
Patient has regained facial function to Grade III/VI House-Brackmann with no asymmetry at rest.
An unusual pattern of injury is described. We suggest that in patients presenting with facial nerve paralysis secondary to blunt trauma, without an associated temporal bone fracture, high-resolution magnetic resonance imaging is recommended to evaluate internal auditory canal discontinuity of the VIIth and VIIIth nerve complexes. A potential mechanism of avulsion is explained.
Abstract
Spontaneous cerebrospinal fluid (CSF) leak through the posterior fossa (PF) aspect of the petrous bone is exceedingly rare. A case series allows analysis of etiologies and how they may ...differ from the more common middle fossa (MF) route of leakage. The design was a retrospective case series. The setting was a tertiary care institution. A series of three patients with PF spontaneous CSF leaks was identified. High-resolution imaging (CT and MRI) and intraoperative observations were evaluated. Both in this series and in previously reported cases, patients share the demographics typically found in the MF leak population. In our series, two patterns of PF CSF leak were identified: (1) large unilateral with cerebellar encephalocele and (2) small punctate defects just lateral to the endolymphatic sac. Two presented with simultaneous MF and PF leaks suggesting a shared etiology, at least in some cases, with a role for increased intracranial pressure. In spontaneous CSF leaks, it is important to evaluate the posterior petrous bone along with the tegmen. The concomitant appearance of MF with PF leaks points out the risk that repair via MF craniotomy could fail to identify a leakage site in the vicinity of the endolymphatic sac.
Intratympanic (IT) steroid injections are often used for the treatment of inner ear pathologies, including sudden sensorineural hearing loss. IT steroids are also commonly used in conjunction with or ...in case of systemic steroid therapy failure. They are viable options for patients who cannot endure side effects or are at high risk of complications from systemic therapy. The duration of treatment, strength, and type of steroid, and number of IT injections are important factors that impact possible treatment complications. Reported complications, though uncommon, include tympanic membrane perforation, otalgia, vertigo, otitis media, and acne. In this report, we explore a novel case of incus necrosis associated with oral and/or IT steroid administration.
Clinical Capsule Report.
Tertiary Academic Center.
We present a case of a 70-year-old male with sudden sensorineural hearing loss who developed incus necrosis and conductive hearing loss following treatment with oral and intratympanic steroids.
The patient underwent a left tympanoplasty with ossicular chain reconstruction to treat the conductive component of his hearing loss.
The left tympanoplasty almost fully-resolved the conductive component of his hearing loss. However, intraoperative and CT assessment of the temporal bone revealed resorption of the long process of the incus, with otherwise normal-appearing ossicles.
We report the first case of possible steroid-induced necrosis of the long process of the incus. Owing to its tenuous blood supply, the incus may be predisposed to steroid-induced osteonecrosis similar to that of the femoral head.
PDF
