Facial Impairment Research Articles

Functional Outcomes and Self-Reported Quality of Life in Patients with Facial Nerve Impairment Following Vestibular Schwannoma Surgery

Objective: The aim of this observational retrospective study was to report quality of life (QoL) in patients with postoperative facial nerve (FN) palsy after vestibular schwannoma (VS) surgery, investigating clinical factors related to functional outcomes. Methods: Forty-eight consecutive patients (M:F 25:23; median age: 52.5 years) with facial palsy following surgery for sporadic VS were considered retrospectively. FN palsy was graded by using the Sunnybrook facial grading system (SBFGS), while postoperative QoL and subjective functional aspects were assessed by using the Penn Acoustic Neuroma Quality of Life (PANQOL) Scale, the Synkinesis Assessment Questionnaire, and questions on eating and drinking. Results: A significant correlation emerged between all Sunnybrook scores and median PANQOL domain regarding facial function. Increasing overall SBFGS scores were associated with reduced risk of slow chewing on the affected side (p = 0.004), lack of masticatory strength (p = 0.025), masticatory fatigue (p < 0.001), accumulation of food in the oral vestibule (p < 0.001), difficulty in drinking from a glass (p = 0.019), and fluid spillage while drinking (p = 0.016). Conclusions: This study suggests that the clinical evaluation of patients with FN palsy after VS surgery should be integrated with patient reports about functional outcomes and perceived QoL to help clinicians guide rehabilitation choices.

Translation and Reliability of the Facial Disability Index (FDI) in Bell’s Palsy

Background: Bell's palsy, a sudden-onset facial paralysis linked to the facial nerve, is often poorly assessed in non-English-speaking populations due to culturally insensitive tools. The Facial Disability Index (FDI) is traditionally used but lacks adaptations for Urdu-speaking patients, leading to potential disparities in care. Objective: This study aimed to translate and evaluate the reliability and validity of the Urdu Facial Disability Index (UFDI) for assessing facial impairment in Bell's palsy patients. Methods: A cross-sectional study design was employed over four months, recruiting 203 Urdu-speaking patients with Bell's palsy from rehabilitation clinics. The UFDI underwent rigorous translation and cultural adaptation processes, including forward and backward translation and expert committee reviews. Participants completed the UFDI and the House-Brackmann Facial Grading Scale (HBFGS) for validity assessment. Descriptive statistics and reliability analyses were conducted using SPSS version 25, with Cronbach's alpha for internal consistency and intraclass correlation coefficient (ICC) for test-retest reliability. Results: The UFDI showed a Cronbach’s alpha of 0.77 and an ICC of 0.99, indicating good internal consistency and excellent test-retest reliability. Spearman’s rho showed significant correlation with HBFGS (r = 0.508, p < 0.05), confirming convergent validity. Conclusion: The UFDI is a reliable and valid tool for assessing facial disability in Urdu-speaking patients with Bell’s palsy, enhancing culturally sensitive clinical care.

Development of a Machine Learning Algorithm to Forecast the Likelihood of Postoperative Neurological Complications in Patients With Parotid Tumors.

Objective: The objective of this study was to create and verify a machine learning-driven predictive model to forecast the likelihood of facial nerve impairment in patients with parotid tumors following surgery. Methods: We retrospectively collected data from patients with parotid tumors between 2013 and 2023 to develop a prediction model for postoperative facial nerve dysfunction using 5 ML techniques: Logistic Regression (Logit), Random Forest (RF), XGBoost (XGB), Artificial Neural Network (ANN), and Support Vector Machine (SVM). Predictor variables were screened using binomial-LASSO regression. Results: The study had a total of 403 participants, out of which 56 individuals encountered facial nerve damage after the surgery. By employing binomial-LASSO regression, we have successfully identified 8 crucial predictive variables: tumor kind, tumor pain, surgeon's experience, tumor volume, basophil percentage, red blood cell count, partial thromboplastin time, and prothrombin time. The models utilizing ANN and Logit achieved higher area under the curve (AUC) values, namely 0.829, which was significantly better than the SVM model that had an AUC of 0.724. There were no noticeable disparities in the AUC values between the ANN and Logit models, as well as between these models and other techniques like RF and XGB. Conclusion: Using machine learning, our prediction model accurately predicts the likelihood that patients with parotid tumors may experience facial nerve damage following surgery. By using this model, doctors can assess patients' risks more accurately before to surgery, and it may also help optimize postoperative treatment techniques. It is anticipated that this tool would enhance patients' quality of life and therapeutic outcomes.

Transoral endoscopic assisted reduction and internal fixation of mandibular condylar neck fractures with short condylar segment

This study aimed to assess the reliability and safety of transoral endoscopic-assisted reduction internal fixation (TERIF) for treating short-segment condylar neck fractures (CNF), including hardware removal.Patients with displaced CNF and short condylar segments treated using TERIF were included in the study. Clinical evaluation covered dental occlusion, range of mouth opening, deviation during mouth opening, protrusion, laterotrusion, pain, and chewing. Radiological evaluation was used to assess fracture displacement, angulation, head dislocation, postoperative reduction, fixation stability, and bone healing. The same technique was used to treat 15 patients with 18 CNF and short condylar segments. Hardware removal was performed for nine fractures in eight patients after fracture healing using the same approach.All patients regained satisfactory, pain-free mouth opening with no deviation and complete bone healing. Computed tomographic images displayed adequate reduction and stable fixation during the follow-up period for all patients. No temporary or permanent facial nerve impairment occurred in any of the patients.TERIF is a reliable and safe treatment for CNF with short condylar segments, even in the presence of head dislocation, medial override, and malunited fractures; hardware can be safely removed after healing using the same approach.

Gradenigo Syndrome With Facial and Hypoglossal Nerve Impairment Caused by Nontuberculous Mycobacteria Successfully Treated by Antibiotics Without Surgery.

Gradenigo Syndrome With Facial and Hypoglossal Nerve Impairment Caused by Nontuberculous Mycobacteria Successfully Treated by Antibiotics Without Surgery.

COVID-19 vaccine-induced ptosis and ophthalmoparesis: A new rare neurological manifestation

Neuromuscular manifestations of SARS-CoV-2 vaccinations have been reported increasingly over the last years. Specifically, cranial multineuropathies are extremely rare entities and few cases have been reported related to COVID-19, whereas, todate, no case has been observed after vaccine against SARS-CoV-2. Herein we describe a patient who presented ptosis, ophthalmoparesis and a subclinical facial nerve impairment after two weeks from the second dose of AZD1222 (ChAdOx1-S [recombinant]) vaccine.

Post-parotidectomy facial nerve function: comparison between original and modified Sunnybrook Facial Grading Systems.

Facial nerve dysfunction is the principal postoperative complication related to parotidectomy. To test the hypothesis that the modified Sunnybrook Facial Grading System (mS-FGS) is superior to the original S-FGS in the assessment of facial nerve function following parotidectomy. Prospective, longitudinal study evaluating patients with primary or metastatic parotid neoplasms undergoing parotidectomy with facial nerve-sparing between 2016 and 2020. The subjects were assessed twice, on the first postoperative day and at the first outpatient evaluation, 20-30 days post-surgery. Facial assessments were performed using the original and modified (plus showing the lower teeth) versions of the Sunnybrook System and documented by pictures and video recordings. Intra- and inter-rater agreements regarding the assessment of the new expression were analyzed. 101 patients were enrolled. In both steps, the results from the mS-FGS were significantly lower (p < 0.001). Subjects with a history of previous parotidectomy and those who underwent neck dissection had more severe facial nerve impairment. The mandibular marginal branch was the most frequently injured, affecting 68.3% of the patients on the first postoperative day and 52.5% on the first outpatient evaluation. Twenty patients (19.8%) presented an exclusive marginal mandibular branch lesion. The inter-rater agreement of the new expression assessment ranged from substantial to almost perfect. The intra-rater agreement was almost perfect (wk = 0.951). The adoption of the Modified Sunnybrook System, which includes evaluation of the mandibular marginal branch, increases the accuracy of post-parotidectomy facial nerve dysfunction appraisal.

Facial and Cochlear Nerves Outcomes in the Surgical Resection of Giant Vestibular Schwannoma: Is There Any Predictive Value for Intraoperative Neuromonitoring of the Facial Nerve?

Background: Giant vestibular schwannoma (VS) represents one of the most challenging interventions in skull base surgery. Preserving facial and cochlear nerves requires effective surgical planning and nuanced techniques. Objectives: The present study evaluates the role of intraoperative neuromonitoring (IONM) in predicting the outcome of facial and cochlear nerves. Methods: This retrospective cohort comprised 34 patients with a giant (Samii IV/IVb grade) VS during 2016 - 2019. The retrosigmoid approach was used for tumor resection. Pre- and postoperative facial exams were graded according to the House-Brackmann Scale. Hearing ability was also classified according to the Hannover Hearing Classification. Intraoperative findings included the location of the nerve complex, tumor consistency, the surgical plane of the tumor from the facial nerve/ brainstem, and the level of internal auditory canal (IAC) decompression. Intraoperative neuromonitoring was used for all surgeries. The amplitude required for a positive response was recorded during the facial nerve's direct electrical stimulation (DES). All patients were followed 6 and 12 months postoperative. Results: The preoperative facial nerve function was normal in 91.2% of patients, and 8.8% had slight facial nerve impairment (FNI). Considering preoperative hearing status, 9 cases (26.5%) had moderate hearing loss or impairment, while 25 patients (73.5%) complained of severe hearing impairment. The mean intraoperative direct facial nerve stimulation threshold was 1.38 ± 0.89. Hearing impairment was moderately severe in 7 (20.6%) and severe in 25 patients (73.5%) postoperation. In addition, postoperative assessment revealed 13 (38.2%) cases with moderate FNI and 12 (35.2%) with moderately severe FNI. The tumor size did not affect the postoperative hearing loss, and the postoperative hearing loss did not improve significantly (P = 0.32). There was no statistically significant correlation between the intensity of intraoperative DES and postoperative facial nerve function (P &gt; 0.05). No significant correlation was observed between tumor consistency and postoperative hearing status (P &gt; 0.05). Conclusions: The retrosigmoid approach combined with IONM appears to be associated with favorable facial and cochlear nerve outcomes in giant VS. The postoperative facial nerve function may improve, but sensorineural hearing status may not improve significantly. Moreover, the intensity of intraoperative DES may not predict the postoperative facial function. Therefore, the findings of IONM should be interpreted carefully.

Face to Face: deciphering facial involvement in inclusion body myositis.

The objective of this study is to evaluate the frequency and characteristics of facial involvement in inclusion body myositis (IBM) patients and to compare it to the one previously described in facioscapulohumeral dystrophy (FSHD) patients. Thirty-two IBM patients were included and compared to 29 controls and 39 FSHD patients. All participants were recorded in a video as they performed a series of seven facial tasks. Five raters independently assessed facial weakness using both a qualitative evaluation and a semi-quantitative facial weakness score (FWS). IBM patients had higher FWS than controls (7.89 ± 7.56 vs 1.06 ± 0.88, p < 0.001). Twenty IBM patients (63%) had a facial weakness with a FWS above the maximum value for controls. All facial tasks were significantly more impaired in IBM patients compared to controls (p < 0.001), task 2 evaluating orbiculari oculi muscle weakness being the most affected. IBM patients with facial weakness reported more swallowing troubles than IBM patients without facial weakness (p = 0.03). FSHD patients displayed higher FWS than IBM patients (12.16 ± 8.37 vs 7.89 ± 7.56, p = 0.01) with more pronounced facial asymmetry (p = 0.01). FWS inter-rater ICC was 0.775. This study enabled us to estimate the frequency of facial impairment in IBM in more than half of patients, to detail its characteristics and to compare them with those of FSHD patients. The standardized, semi-quantitative FWS is an interesting diagnostic help in IBM as it appeared more sensitive than qualitative evaluation to detect mild facial weakness.

Curative high-dose reirradiation for patients with recurrent head and neck adenoid cystic carcinomas: outcomes and analysis of patterns of failure

Background To investigate the outcomes of patients who underwent curative reirradiation (reRT), with intensity-modulated radiation therapy (IMRT) or proton therapy (PT) for unresectable recurrent or second primary head and neck adenoid cystic carcinoma (HNACC). Methods Ten patients, mostly KPS 90%, were reirradiated (3/10 with IMRT and 7/10 with PT) at a median maximum dose to the CTV of 64.2 Gy from July 2011 to November 2021. Locations at the time of reRT were mainly the sinus (4/10) and the salivary glands (including the parotid and submandibular gland, 3/10). CTCAEv5 was used to assess acute and late toxicities. Follow-up was the time between the end of reRT and the date of last news. Results The median time between the two irradiations was 53.5 months (IQR: 18–84). After a median follow-up of 26 months (range, 12.5–51.8 months), six patients had developed a locoregional recurrence (LR), of which four occurred within the previously irradiated volume. Two and three-year locoregional failure-free survival (LFFS) and overall survival (OS) were 55.6% [95%CI: 31–99.7%], and 41% [18.5–94%] and 66.7% [42–100%] and 44.4% [21.4–92.3%], respectively. LFFS and OS were significantly better in the subgroup of sinus tumors (p = .013) and the subgroup of patients re-irradiated more than two years after the first course of irradiation (p = .01). Seven patients had impairments before the start of reRT, including hearing impairment (3/10) and facial nerve impairment (3/10). The most severe late toxicities were brain necrosis (2/10), osteoradionecrosis (1/10) and vision decreased (1/10). Conclusion Curative reRT for HNACC is possible for selected cases, but the LR rate in the irradiated field and the risk of severe toxicity remain high. Improved selection criteria and more carefully defined target volumes may improve outcome in these patients. A further study including larger cohort of patients would be useful to confirm these results.

Stereotactic radiotherapy in acoustic neuroma cases: Tumor control and clinical results

Since acoustic neuromas (AN) are slow-growing tumors, they frequently reduce patients' quality of life by compressing adjacent nerves. After evaluating various factors, the most appropriate treatment for the patient is preferred among follow-up, surgery, or radiotherapy. Surgery and radiotherapy have been shown to have comparable results in AN. Stereotactic radiotherapy (SRT) has long emerged as a viable option for treating intracranial tumors. Thus, it was aimed to determine the local control rate (LCR), and treatment failure and to evaluate the hearing level and facial nerve symptoms in AN treated with SRT. Forty-five patients were treated consecutively with CyberKnife-SRT between January 2014 and December 2021. Tumors were anatomically classified according to Koos grade; patients presenting with hearing impairment were graded according to the Gardner-Robertson (GR) scale and patients’ expressions. Loss of function in the facial nerve was also evaluated according to the House-Brackman scale. SRT was applied to 24 patients with 12 Gy/1 fx, 18 with 18 Gy/3 fx, and 3 with 25 Gy/5 fx. At a median follow-up of 24 months (2-73), progression was detected in 4 (8.9%) patients. None required additional intervention, and no treatment failure was observed (0%). Tumor control was achieved in 91.1% of the patients; 2-y and 5-y LCR were 91.2% and 79.8%. It was observed that 3 (30%) out of 10 patients who had serviceable hearing according to the GR scale at the beginning were non-serviceable hearing during the follow-up. Transient facial paralysis was observed in 3 (6.7%) patients. No statistically significant factor could be detected in LCR, hearing, and facial nerve preservation. Our findings are similar to previous SRT data regarding LCR, treatment failure, hearing preservation, and facial nerve impairment. SRT is an effective treatment method for AN with reasonable results.

Moebius syndrome: A case report from Indonesia

Introduction: Moebius syndrome is a neurological condition characterized by congenital facial uniplegia or diplegia due to peripheral type facial nerve paresis and lateral eye movement paresis due to abducens nerve paresis resulting in strabismus. Incidence of Moebius syndrome is 0.27/100,000 live births and often associated with abortion attempts. The following is a case report of Moebius syndrome in Indonesia of a 14-year-old girl with a history of attempted abortion by her mother. Case Report: A 14-year-old girl came with facial muscle complaints in the form of difficulty in raising both eyebrows and closing the mouth since birth. These complaints cause difficulty in eating and drinking. Complaints accompanied by abnormality of the limbs and the number of finger in toes and hands. The patient’s mother had a history of attempted abortion by taking the chemical disinfectant chloroxylenol 4.8% and other drugs. There was bilateral facial nerve paresis and cognitive impairment. On examination of brain magnetic resonance imaging (MRI), it was within normal limits. The patient was planned for physiotherapy and consulted to orthopedics. Conclusion: Moebius syndrome is a collection of rare neurological clinical manifestations in children. Exposure to chemicals during pregnancy can be the etiology of this syndrome in addition to genetics. Management of Moebius syndrome is limited to supportive and symptomatic approach.

Phase II trial of icotinib in adult patients with neurofibromatosis type 2 and progressive vestibular schwannoma.

Neurofibromatosis type 2 (NF2) is a rare autosomal dominant syndrome associated primarily with bilateral vestibular schwannomas (VSs). Conventional surgical or radiosurgical treatments for VS in NF2 usually result in high risks of hearing loss and facial nerve impairment, while there is no validated medical option to date. This single-institution phase II study evaluated the efficacy and safety of icotinib, an oral epidermal growth factor receptor tyrosine kinase inhibitor, in patients with NF2 and progressive VS. Icotinib was administered daily at 375 mg orally in a continuous 28-day course for up to 12 courses. The primary endpoint of the study was radiographic response assessed by brain MRI using 3D volumetric tumor analysis and defined as a ≥ 20% decrease in VS volume. Hearing function was evaluated as a secondary endpoint, with response defined as a statistically significant increase in word recognition scores. Ten eligible patients with a mean age of 23.8 years were enrolled. One patient (10%) with bilateral tumors experienced an objective radiographic response (-23.58% and -22.01%). Three (43%) of 7 patients met the hearing response criteria. At 12 months, the estimated progression-free survival was 82.0% (95% CI 42.3%-95.5%) for volumetric progression and 69.2% (95% CI 37.3%-87.2%) for hearing progression. Common mild to moderate adverse events included rash (90%), diarrhea (50%), myalgia (20%), and nausea/gastrointestinal pain (20%). Icotinib carries minor toxicity and is associated with radiographic and hearing responses in patients with NF2 and progressive VS.

Translation, cross-cultural adaptation, and validation of the Italian version of the Synkinesis Assessment Questionnaire in individuals with peripheral facial palsy.

After peripheral facial palsy, the onset of facial synkinesis results in aesthetic disfigurement and local muscle tension or pain, with possible deterioration of patient's well-being and social participation. The availability of valid instruments to evaluate patient-reported severity of facial synkinesis is important to capture the subjective perception of facial impairment. To generate and validate an Italian version of the Synkinesis Assessment Questionnaire, a patient-reported outcome measure to assess patient-perceived severity of facial synkinesis after peripheral facial palsy. Observational study. Outpatient clinic of a Rehabilitation Unit. Seventy-five patients with peripheral facial palsy. Through a process of translation and cross-cultural adaptation, we generated the Italian version of the questionnaire (SAQ-IT) and administered it twice to patients with peripheral facial palsy. We evaluated the clinical severity with the Sunnybrook Facial Grading System (SFGS) and the physical and social/well-being function with the two subscales of the Facial Disability Index (FDI-PHY and FDI-SWB, respectively). Cronbach's alpha was 0.87. Item-total correlations ranged from 0.30 to 0.70, while inter-item correlations ranged from 0.15 to 0.82, with an average value of 0.48. Test-retest reliability showed an Intraclass Correlation Coefficient of 0.946 (95% confidence interval: 0.916-0.966). The minimum detectable change (with a 95% confidence level, MDC<inf>95</inf>) was 13.14 points. The correlation between SAQ-IT and the SFGS synkinesis subscore was rho=0.74, while that with the SFGS composite score was rho=0.25, with the FDI-PHY rho=-0.11 and with the FDI-SWB rho=-0.13. Our study validates the SAQ-IT in Italian-speaking individuals with peripheral facial palsy, confirming its acceptable psychometric properties, and providing the MDC<inf>95</inf>. The availability of a valid instrument for the evaluation of patient-perceived severity of facial synkinesis plays an important role in the definition of tailored rehabilitative interventions after peripheral facial palsy.

Persisting sicca complaints in sarcoidosis.

BackgroundSarcoidosis is a systemic inflammatory disease that is characterized by non-caseating granulomas. Besides the lung as classical site of involvement, extrapulmonary manifestations are common, for example cervical lymph nodes or the salivary glands. The aim of this investigation is the analysis of the long-term course of glandular symptoms with a focus on persisting sicca symptoms.Materials and methodsAll patients with the diagnosis of sarcoidosis over a period of 20 years in the departments of otorhinolaryngology, nephrology and pneumology were identified. In addition to clinical examinations and functional evaluation of the salivary glands, a sonographic examination of the salivary glands was carried out.ResultsA total of 76 patients were included in the study (age 35.1 ± 21.6 years). At baseline, 32 out of 76 patients were suffering from xerostomia, 36 from dry eyes. While other salivary gland symptoms, such as gland enlargement, pain or facial nerve impairment, dissolved during the further course of the disease, xerostomia was still present in 29 and dry eyes in 35 out of 76 patients at the time of follow-up (which took place on average after 88.2 months).ConclusionSicca symptoms persist in patients with the diagnosis of sarcoidosis, while other salivary gland symptoms completely dissolve during the further course of the disease. This development appears to be independent of the type of therapy and should be considered during the follow-up of these patients, since sicca symptoms can cause further ocular, oral and dental damage.

Symptoms and clinical features in patients affected by endolymphatic sac tumor: a systematic review and meta-analysis.

Most ELST data in the literature are case studies or limited to small cohorts (< 16 patients). We evaluated the main clinical signs observed at endolymphatic sac tumor (ELST) diagnosis in patients with or without Von Hippel-Lindau disease. We conducted a comprehensive literature search in PubMed, Scopus, and Web of Science. We included studies with at least 1 patient, of any age, affected by sporadic or VHL-related ELSTs reporting levels of hearing loss and facial nerve function and a comprehensive description of presenting symptoms at ELST diagnosis. We combined data for proportional meta-analysis. p values of 0.05 were considered statistically significant. Methodological quality was evaluated. Analyses were performed with MedCalc 14.8.1 software. A total of 26 studies, including 113 patients and 118 cases of ELSTs were included. Pooled proportion rates (95% CI) of overall hearing loss was 88.7%, (82.4-93.4), severe hearing loss was 21.6% (12.8-32.1) profound hearing loss was 39.8% (28.7-51.5), vertigo/imbalance was 42.0% (33.8-50.5), tinnitus was 61.8% (53.4-69.8) and facial nerve palsy was 30.6% (23.2-38.9). Generally, symptoms were homogeneous or moderately heterogeneous among included studies. This is the first systematic review of clinical presentations at ELST diagnosis. The most serious clinical events include profound hearing loss and facial impairment. Fluctuating hearing loss, tinnitus and vertigo are frequently reported and may confound correct and prompt ELST diagnosis.

A cross-sectional analysis of facial palsy-related quality of life in 125 patients: Comparing linear, quadratic and cubic regression analyses.

Facial function correlates with quality of life in facial palsy. Previous studies have examined a linear relationship; based on clinical experience, we hypothesize a curved regression (i.e. quadratic or cubic) will be more fitting to show the correlation between quality of life and facial function. We compared the fit of a linear regression model between Sunnybrook scores (facial function) and FaCE and FDI scores (quality of life) to a quadratic and cubic regression model in 125 patients cross-sectionally. A total of 125 patients were included, 53.6% female with a mean (standard deviation) age of 56.6 (16.7) and a median (interquartile range) duration of palsy of 6.6 (1.5; 18.3) years. The quadratic regression proved a significant improvement over a linear regression analysis in the model using the FaCE total score (linear R2 =.346, quadratic R2 = .378, p = .033) and the FDI physical score (linear R2 = .245, quadratic R2 =.276, p = .034). The cubic regression analysis was no significant improvement over a quadratic regression. The relationship between facial function and quality of life in facial palsy is not linear meaning that there is a lot of variation in QoL in cases with severe and moderate facial impairment. This is most applicable to patients suffering from post-paralysis synkinesis, proving the highly individually experienced burden of synkinesis. As the relationship is not linear it should not be included as such in future research studies.

An Endocrinological approach to Cornelia de Lange Syndrome

Cornelia de Lange syndrome is a developmental disorder with a great degree of clinical and genetical variability characterized by typical facial features, growth impairment and multi-organ anomalies. It is caused by mutations in the cohesin complex that is involved in regulation of gene expression. Growth disturbances are a major feature of the syndrome and have various underlying mechanisms. Other associations regarding endocrine function are represented by disturbances in the hypothalamic-pituitary axis, decreased bone density associated with fractures and genital malformations associated with menstrual irregularities and altered fertility.

Stereotactic radiosurgery for vestibular schwannomas in neurofibromatosis type 2 patients: a systematic review and meta-analysis.

Neurofibromatosis type 2 (NF2) is characterized by often bilateral vestibular schwannomas (VS) that result in progressive hearing loss and compression of nearby brainstem structures causing cranial nerve palsies. Treatment of these tumors remains challenging, as both surgical removal and expectant management can result in symptom progression. Stereotactic radiosurgery (SRS) has been investigated for the management of NF2-associated VS; however, the role, promises, and pitfalls of this treatment modality remain unclear. Ovid MEDLINE, EMBASE, Web of Science, and Cochrane Reviews were searched for studies assessing SRS outcome in NF2-associated VS only. Primary endpoints included tumor control, serviceable hearing, presence of tinnitus, and cranial nerve V and VII symptoms. A total of 16 studies (589 patients harboring 750 tumors) were analyzed. Clinical tumor control was achieved in 88% of cases (95% CI 80-95%); salvage surgery was needed in 8% (95% CI 4-13%) of cases. Treatment resulted in a worsening of pre-treatment serviceable hearing (OR = 0.26, p < 0.01), increased facial nerve (OR = 1.62, p < 0.01) and trigeminal nerve (OR = 1.42, p = 0.07) impairment. The incidence of vestibular symptoms and hydrocephalus were not consistently reported and thus could not be assessed. The treatment of NF2-associated VS continues to pose a challenge, as current SRS regimens result in impaired hearing and worse cranial nerve comorbidities, despite achieving high tumor control. It remains unclear if these findings have to be regarded as treatment complications or, rather, continued disease progression.

Mucopolissacaridose tipo VI (síndrome de Maroteaux-Lamy): 15 anos de seguimento clínico após terapia de reposição enzimática

ABSTRACT Type VI mucopolysaccharidosis, known as Maroteaux-Lamy syndrome, is an autosomal recessive genetic disease caused by deficiency of the lysosomal arylsulfatase B enzyme, leading to the accumulation of glycosaminoglycans in the lysosomes of all cell from an affected patient. This accumulation can lead to several clinical manifestations (growth retardation, dysmorphic facial features, motor impairment, audiovisual deficiencies, osteoarticular contractures and cardiorespiratory problems) that reduce the quality of life of an individual affected by such disorder. Symptom progression can lead to premature death. The only therapeutic possibilities for Maroteaux-Lamy syndrome were multiprofessional team care and bone marrow transplant (that has a high morbidity and mortality rate). Recently, clinical studies have demonstrated the safety and positive impact of enzyme replacement therapy (ERT) with rhASB (galsulfase, Naglazyme®) in MPS VI patients, especially when early initiated, halting the progressive involvement of many systems affected by this disease. Here we report the a Maroteaux-Lamy patient under ERT, drawing a parallel with his elder brother, also affected by the same disorder, who passed away before initiating ERT, pointing out the impact of the specific therapy in the management of multisystemic genetic disease and the challenges in the clinical follow-up of such patients.