Myhre-LAPs syndrome and intubation related airway stenosis: keys to diagnosis and critical therapeutic interventions.

OBJECTIVES: Myhre-LAPS syndrome is a recently recognized disease caused by a mutation in the SMAD4 gene. This results in a range of pathology including laryngotracheal stenosis, arthropathy, prognathism and short stature, or LAPS syndrome. We aim to delineate the role of intubation in development of airway stenosis in these patients as well as provide insight into diagnosis and management of this syndrome. Herein we present four patients with Myhre-LAPS syndrome complicated by airway stenosis and perform a systematic review of all cases of Myhre-LAPS syndrome with reported airway pathology. STUDY DESIGN: Retrospective review METHODS: All patients diagnosed with Myhre-LAPS syndrome and airway stenosis at a single institution from 1981 to 2014 were reviewed. RESULTS: Four patients (4F, median age 42) were identified that met inclusion criteria. Initial presenting signs included progressive shortness of breath, dyspnea on exertion and respiratory distress. All four (100%) patients had multi-level airway stenosis most commonly in the subglottic and glottic regions and all patients had undergone at least one endotracheal intubation prior to presentation. One patient with a history of nasal tracheal intubation presented with nasal obstruction and was found to have choanal as well as subglottic stenosis. Two of the four (50%) patients are tracheostomy tube dependent, 1/4 (25%) died of a fatal cardiac arrhythmia and 1/4 (25%) has had 6 endoscopic treatments for subglottic stenosis in 4 years with rapid symptom recurrence. CONCLUSIONS: Myhre-LAPS syndrome is characterized by progressive systemic fibrosis and patients are diagnosed by characteristic findings of prognathism, short stature, abnormal facies, and thick skin among other abnormalities. Airway management is complicated by recurrent, refractory subglottic stenosis often preceded by elective intubation as well as maxillary hypoplasia, trismus, and limited neck extension. Endotracheal intubation and surgical intervention should be approached with caution in these patients and multidisciplinary care teams are necessary to address all manifestations of this syndrome.

Paraganglioma of the facial canal: a report of 2 cases and literature review.

PURPOSE: 1. Describe the presentation, imaging, and outcome of two cases of paraganglioma of the facial canal at our institution. 2. Summarize existing literature to better understand this lesion. 3. Clarify terminology. METHODS: Retrospective chart review at single tertiary academic referral center. Literature review using the PubMed electronic database. RESULTS: There are 12 cases of histologically-proven paraganglioma of the facial canal published in the English literature. We present two additional cases that were encountered at our institution. We also include three additional cases from a separate institution that have been accepted for publication in a different journal. We found that patients most commonly present with slowly progressive facial paralysis; though paralysis can be acute. The second most common symptom was pulsatile tinnitus, which was the only symptom in one patient. Radiographically, tumor location was in the descending segment in all but one case. The mass was often centered directly over the stylomastoid foramen, mimicking a parotid mass. We found circumferential widening of the proximal fallopian canal, and a "moth-eaten" bony destruction distally on CT imaging in several patients. In patients with poor facial nerve function (HB IV-VI), complete tumor removal with nerve sacrifice followed by great auricular or sural nerve grafting was performed with acceptable facial function results. CONCLUSIONS: Paraganglioma of the facial canal remains a rare etiology of progressive facial paralysis. The lesions are found in the distal descending segment, or centered over the stylomastoid foramen 94% of the time. In patients with poor facial function, surgical removal with nerve sacrifice, followed by great auricular or sural nerve grafting, yields an acceptable functional result.

Cochlear implantation for single-sided deafness: A multicenter study.

OBJECTIVES/HYPOTHESIS: To report the preliminary outcomes of patients with single-sided deafness and asymmetric hearing loss undergoing cochlear implantation at two centers. STUDY DESIGN: Retrospective review and prospective data collection. METHODS: Patients with single-sided deafness who underwent cochlear implantation at two centers were included. Pre- and postoperative measures included monosyllabic word and sentence recognition in quiet for the ear implanted, and sentence recognition in noise in the best-aided bilateral condition. RESULTS: Average monosyllabic word recognition scores in quiet improved significantly from 11.3% (standard deviation [SD] 15.6%) preoperatively to 48.7% (SD 24.2%) at the 3-month postactivation interval, although they did not increase significantly between the 3-month and 6-month intervals. Sentence recognition scores in quiet increased significantly from 18.4% (SD 28.5%) preoperatively to 65.9% (SD 17.9%) at the 3-month postactivation interval, but not between the 3-month and 6-month intervals. Sentence recognition in noise in the best-aided bilateral condition increased from 59% (SD 16.3%) preoperatively to 72% (SD 16.0%) at 6-months postactivation, though the difference was not statistically significant. Thirteen of the participants reported tinnitus prior to surgery. Of those, 12 reported that tinnitus was improved after implantation, and one reported that tinnitus was unchanged. CONCLUSION: Preliminary results suggest that speech recognition in a singly deafened ear is significantly improved after cochlear implantation, although speech recognition in noise measured in the bilateral condition remains the same at 6-months postactivation. LEVEL OF EVIDENCE: 4. Laryngoscope, 127:223-228, 2017.

Stereotactic Radiosurgery for Cystic Vestibular Schwannomas.

BACKGROUND: The optimum treatment for cystic vestibular schwannoma (VS) remains controversial. Anecdotally, many treating physicians feel that cystic VSs do not respond to stereotactic radiosurgery (SRS) as well as noncystic tumors. OBJECTIVE: To present outcomes after treatment of predominantly cystic VS with SRS. METHODS: A prospectively maintained clinical database of patients undergoing Gamma Knife (Elekta Instruments, Stockholm, Sweden) radiosurgery (GKRS) for VS at a single tertiary academic referral center was retrospectively reviewed. Patients diagnosed with cystic VS who were treated with GKRS between 1997 and 2014 were analyzed. Size-matched solid tumors treated with GKRS during this period were selected as controls. RESULTS: Twenty patients (12 women; median age at treatment, 56 years; range, 36-85 years) with cystic VS met inclusion criteria. The median radiologic follow-up within the cystic group was 63 months (range, 17-201 months), and the median change in tumor size was -4.9 mm (range, -10.4 to 9.3 mm). Sixteen tumors (80%) shrank, 2 (10%) remained stable, and 2 (10%) enlarged, accounting for a tumor control rate of 90%. The median radiologic follow-up in the noncystic control group was 67 months (range, 6-141 months), and the median change in size was -2.0 mm (range, -10.4 to 2.5 mm). Tumor control in the solid group was 90%. Comparing only those tumors that decreased in size showed that there was a trend toward a greater reduction within the cystic group ( P = .05). CONCLUSION: The present study demonstrates that tumor control after SRS for cystic VS may not differ from that of noncystic VS in selected cases.

Supraglottoplasty outcomes in children with Down syndrome.

OBJECTIVE: Children with Down syndrome have a higher incidence of upper airway obstruction and laryngomalacia. We sought to determine outcomes of supraglottoplasty in this patient population. METHODS: A retrospective chart review was performed from January 2000 through January 2014. Children (n = 18) at our institution with the diagnosis of Down syndrome who underwent supraglottoplasty were included. We reviewed patient characteristics, preoperative findings, and surgical outcomes (stridor, feeding problems, respiratory distress, weight, sleep apnea, and tracheostomy or feeding tube dependence). RESULTS: The average age at surgery was 7.7 months. Operative indications included feeding difficulties (n = 9), noisy breathing or respiratory distress (or both) (n = 16), and sleep-related symptoms (n = 7). Most patients (89%) were extubated successfully on postoperative day 1. There were 2 major complications (CPAP requirement and aspiration pneumonia) and no perioperative deaths. Fifty percent had improved weight (mean = 18 percentile points). Feedback was available from 88% of parents with 100% reporting improvement in respiratory symptoms and 93% reporting improved feeding. Eight patients (44%) subsequently required either adenoidectomy or adenotonsillectomy. Two patients later underwent tracheostomy, 2 subsequently needed a gastrostomy tube and 2 required revision supraglottoplasty. CONCLUSIONS: The majority of children with Down syndrome and laryngomalacia benefit from supraglottoplasty, with outcomes of improved breathing, feeding, and sleeping. However, approximately half may require additional airway procedures. This procedure is well tolerated and associated with a low risk of complications especially given their high rate of comorbidities.

Atypical cartilaginous tumor/chondrosarcoma, grade 1, of the mastoid in three family members: A new entity.

We present a case series of a family with three members having cartilaginous tumors of the mastoid. All patients presented between the ages of 9 to 12 years with acute onset facial nerve paralysis. Histologic analysis of all tumors showed similar features, consistent with atypical cartilaginous tumors/chondrosarcoma, low-grade. Conventional cytogenetic analysis performed on one of the sons' tumor showed no evidence of chromosomal abnormality. High-resolution array comparative genomic hybridization performed on the same patient's blood also showed no unbalanced chromosomal abnormality. This is the first report of family members with this unusual combination of clinical, radiologic, and histologic finding. Laryngoscope, 126:E310-E313, 2016.

Intralabyrinthine schwannomas.

This article reviews the relevant anatomy, pathophysiology, clinical presentation, radiographic differential, management, outcomes, and rehabilitation of patients with intralabyrinthine schwannomas.

Evaluation of a new mid-scala cochlear implant electrode using microcomputed tomography.

OBJECTIVES/HYPOTHESIS: To investigate electrode position, depth of insertion, and electrode contact using an electrode array with a mid-scala design following round window (RW) and cochleostomy insertion. STUDY DESIGN: Eight fresh-frozen cadaveric bones were implanted; half via a RW approach and half through an anteroinferior cochleostomy using a styleted mid-scala electrode design. METHODS: Microcomputed tomography was used to acquire oblique coronal and oblique axial reformations. Individual electrode positions along each array, insertional depth, and electrode contact were determined using National Institutes of Health Image J software. RESULTS: All electrodes were inserted without significant resistance. The average angular depth of insertion was 436.5° for the RW group and 422.7° for the cochleostomy group. All electrodes acquired a perimodiolar position in the proximal segment and a lateral wall position at the basal turn, regardless of approach. Electrodes distal to the basal turn demonstrated a variable location, with 78% mid scala. One cochleostomy array fractured through the interscalar partition (ISP), acquiring a scala vestibuli position. The odds ratio for either abutting the modiolus, ISP, lateral wall or floor, or fracturing through the ISP were 2.7 times more likely following a cochleostomy insertion (P = .032). CONCLUSIONS: The styleted mid-scala electrode design acquires a proximal perimodiolar position, a lateral wall location, as it traverses the basal turn, and most commonly a mid-scala position in the distal array. Interscalar excursion occurred in one of the cochleostomy insertions. Cochleostomy insertion is more likely to result in ultimate final electrode position adjacent to critical intracochlear structures. LEVEL OF EVIDENCE: NA.

The Natural History and Management of Petrous Apex Cholesterol Granulomas.

OBJECTIVE: To evaluate the clinical and radiographic characteristics of cholesterol granulomas of the petrous apex, as well as the outcomes of operative and conservative management. STUDY DESIGN: Retrospective chart review. SETTING: Two independent tertiary academic referral centers. PATIENTS: Adult and pediatric patients with cholesterol granulomas of the petrous apex were identified from the experience of two separate centers. Patients were included after radiographic diagnosis and clinical evaluation. All patients with less than 6 months of follow-up and those with iatrogenic postoperative cholesterol granulomas were excluded. INTERVENTION: Demographic information, presenting symptoms, imaging characteristics, treatment strategies, and outcomes were recorded. MAIN OUTCOME MEASURES: Patients were evaluated on the basis of symptom and radiographic evolution during time, with or without operative intervention. RESULTS: Ninety petrous apex cholesterol granulomas were analyzed (57.8% females, 55.6% right-sided). The average age at presentation was 43.1 years (median 42.0, range 8.0-77.0 years). The most common presenting symptom was headache (56.7%), and the average lesion size in the greatest dimension was 2.1 cm (median 1.7, range 0.7-5.0 cm). During a mean follow-up of 46.0 months, no cases of spontaneous rupture or carotid injury occurred. Twenty-three patients (25.6%) ultimately underwent surgical management, most commonly for intractable headache, and only 47.8% of these patients experienced durable symptom improvement by their last postoperative follow-up. CONCLUSION: Many cholesterol granulomas of the petrous apex remain stable during time and can be safely managed with primary observation. Surgery should be reserved for lesions that are causing, or threatening, neurologic dysfunction because of mass effect or erosion of critical structures such as the otic capsule. Cranial neuropathy associated with cholesterol granuloma may improve after operative management; however, symptoms such as headache and dizziness are less likely to benefit from surgery. As a general guideline, in the presence of a radiologically stable cholesterol granuloma in the petrous apex, alternative etiologies for headache and dizziness should be considered and treated before offering surgical intervention.

Fibrous dysplasia of the temporal bone: a review of 66 cases.

OBJECTIVES/HYPOTHESIS: Fibrous dysplasia is a condition of nonmalignant osseous change and may occur in a monostotic or polyostotic pattern, the latter potentially being associated with McCune-Albright syndrome. Symptoms are highly variable and dependent upon lesion location and size. STUDY DESIGN: Retrospective review. METHODS: Consecutive subjects with fibrous dysplasia of the temporal bone were evaluated between 2000 and 2013 at two tertiary academic referral centers. Main outcome measures included disease presentation, diagnostic evaluation, management strategy, and outcome. RESULTS: Sixty-six patients with fibrous dysplasia of the skull were found to have involvement of the temporal bone. The mean age at diagnosis was 25 years, 39 (59%) were female, and the mean duration of follow-up was 48 months. Six (11%) patients had monostotic disease, with the remaining 60 (89%) patients having the polyostotic form; 16 (24%) patients had McCune-Albright syndrome. The most common presenting complaint was headache (59%), followed by hearing loss (29%). The most common exam finding was cosmetic deformity (50%). Cholesteatoma (3%) and spontaneous cerebrospinal fluid fistula (1.5%) were found in a small percentage. No patients had evidence of motor cranial neuropathy by history or physical examination. CONCLUSIONS: The clinical presentation of fibrous dysplasia involving the temporal bone is variable. A growing number of patients are diagnosed incidentally through imaging, and since most patients experience a benign course, the majority can be followed clinically without need for intervention. LEVEL OF EVIDENCE: 4.