ABSTRACT
PURPOSE OF REVIEW: Neurofibromatosis 2 (NF2) is an autosomal-dominant genetic disorder characterized by bilateral vestibular schwannomas (VS), meningiomas, ependymomas, spinal and peripheral schwannomas, optic gliomas, and juvenile cataracts. Ongoing studies provide new insight into the role of the NF2 gene and merlin in VS tumorigenesis. RECENT FINDINGS: As NF2 tumor biology becomes increasingly understood, therapeutics targeting specific molecular pathways have been developed and evaluated in preclinical and clinical studies. NF2-associated VS are a source of significant morbidity with current treatments including surgery, radiation, and observation. Currently, there are no FDA-approved medical therapies for VS, and the development of selective therapeutics is a high priority. This manuscript reviews NF2 tumor biology and current therapeutics undergoing investigation for treatment of patients with VS.
Subject(s)
Meningeal Neoplasms , Meningioma , Neurofibromatosis 2 , Neuroma, Acoustic , Skin Neoplasms , Humans , Neurofibromatosis 2/drug therapy , Neurofibromatosis 2/genetics , Neurofibromatosis 2/pathology , Neuroma, Acoustic/drug therapy , Neuroma, Acoustic/genetics , Neuroma, Acoustic/pathologySubject(s)
Cochlea , Gadolinium , Humans , Gadolinium/cerebrospinal fluid , Contrast Media , Magnetic Resonance ImagingABSTRACT
OBJECTIVES: We report a case of isolated pharyngeal plexus injury following posterior plating of a C2 fracture in an 84-year-old white male. METHODS: Methods include a case report with literature review. RESULTS: The patient presented with dense pharyngeal paralysis and inability to initiate swallowing but maintained true vocal cord movement. The patient required gastrostomy tube feeding for 3 months but eventually recovered his swallowing function. Prior literature on acute pharyngeal paralysis following upper cervical spine fracture repairs is reviewed with recommendations for care of this unique patient population. CONCLUSIONS: Traumatic C2 fracture repair can lead to isolated dense pharyngeal paralysis due to pharyngeal plexus injury with subsequent severe dysphagia. Observation may be appropriate in this population, with consideration of tracheotomy for recurrent aspiration.
Subject(s)
Cervical Vertebrae/injuries , Paralysis , Pharynx , Postoperative Complications , Spinal Fractures , Spinal Fusion , Aged, 80 and over , Deglutition Disorders/diagnosis , Deglutition Disorders/etiology , Deglutition Disorders/physiopathology , Deglutition Disorders/rehabilitation , Diagnosis, Differential , Dysphonia/diagnosis , Dysphonia/etiology , Dysphonia/rehabilitation , Gastrostomy/methods , Humans , Magnetic Resonance Imaging/methods , Male , Paralysis/diagnosis , Paralysis/etiology , Paralysis/physiopathology , Paralysis/rehabilitation , Pharynx/innervation , Pharynx/physiopathology , Postoperative Complications/diagnosis , Postoperative Complications/physiopathology , Postoperative Complications/surgery , Spinal Fractures/complications , Spinal Fractures/diagnosis , Spinal Fractures/physiopathology , Spinal Fractures/surgery , Spinal Fusion/adverse effects , Spinal Fusion/methods , Stroboscopy/methods , Treatment Outcome , Vocal Cords/physiopathologyABSTRACT
OBJECTIVE: The timing for resuming continuous positive airway pressure (CPAP) postoperatively after skull base surgery remains controversial because of the risk of pneumocephalus. We determined the safety of immediate CPAP use after middle cranial fossa (MCF) spontaneous cerebrospinal fluid (sCSF) leak repair with bone cement. STUDY DESIGN: Prospective cohort study. SETTING: Tertiary academic medical center. PATIENTS: Thirteen consecutive patients with CPAP-treated obstructive sleep apnea and temporal bone sCSF leaks who underwent skull base repair with hydroxyapatite bone cement between July 2021 and October 2022. INTERVENTIONS: CPAP use resumed on postoperative day 1 after the confirmation of skull base reconstruction with temporal bone computed tomography (CT). MAIN OUTCOME MEASURES: Postoperative skull base defects on CT, pneumocephalus, or intracranial complications. RESULTS: The average age was 55.5 ± 8.8 years (±standard deviation), and 69.2% were female with a BMI of 45.39 ± 15.1 kg/m 2 . Multiple tegmen defects were identified intraoperatively in 53.9% of patients with an average of 1.85 ± 0.99 defects and an average defect size on preoperative imaging of 6.57 ± 3.45 mm. All patients had an encephalocele identified intraoperatively. No residual skull base defects were observed on CT imaging on postoperative day 1. No postoperative complications occurred. One patient developed a contralateral sCSF leak 2 months after repair. There were no recurrent sCSF leaks 1 month postoperatively. CONCLUSION: Immediate postoperative CPAP use is safe in patients undergoing MCF sCSF leak repair with bone cement because of the robust skull base repair.
Subject(s)
Bone Cements , Pneumocephalus , Humans , Female , Middle Aged , Male , Durapatite , Continuous Positive Airway Pressure , Prospective Studies , Retrospective Studies , Skull Base/diagnostic imaging , Skull Base/surgery , Cerebrospinal Fluid Leak/etiology , Cerebrospinal Fluid Leak/surgery , Treatment OutcomeABSTRACT
OBJECTIVES: Minimal data exist to define the use of contemporary dual pH with multichannel intraluminal impedance (MII) probes integrating both pharyngeal acid and impedance sensors to evaluate laryngopharyngeal reflux (LPR) symptoms in a laryngology clinic population. This study was performed to review a series of patients tested with dual pH-MII for suspected LPR symptoms and to analyze pH-MII data findings for this patient cohort. STUDY DESIGN: Case series with planned data collection. SETTING: Tertiary laryngology clinic. SUBJECTS AND METHODS: Patients with symptoms suggestive of possible LPR (dysphonia, chronic cough, globus sensation, subglottic stenosis,) were evaluated with a dual pH-MII system, as well as previously validated reflux finding score (RFS) and reflux symptom index (RSI) instruments. RESULTS: A total of 109 patients were evaluated with dual pH-MII studies between 2010 and 2015, with 51 (47%) studies interpreted as "positive" for evidence of significant LPR, 43 (39%) as "negative," and 15 (14%) as "equivocal." Dual pH-MII data analysis showed that positive studies had an average of 2.84 pharyngeal acid exposures below pH 4 (vs 0.28 for negative) and 46 episodes of proximal reflux exposure (either acid or nonacid) by impedance detection (vs 30.6 for negative). RSI scores were significantly different between positive and negative studies, while RFS scores were not. CONCLUSIONS: Dual pH-MII analysis is a useful supplementary tool to provide objective evidence of pharyngeal reflux exposure in patients with suspected LPR. RSI scores appear to correlate with objective evidence of acid exposure in the pharynx, while RFS scores do not.