Characteristics and outcome of facial nerve palsy from Lyme neuroborreliosis in the United States.

OBJECTIVES: Facial palsy is the most common manifestation of Lyme neuroborreliosis (LNB) in the United States. This study aimed to describe features of patients with early LNB presenting with facial palsy and to determine if corticosteroids in addition to antibiotic therapy was associated with unfavorable outcome. METHODS: Retrospective analysis of participants enrolled in clinical studies investigating Lyme disease (N = 486) identified 44 patients who had facial palsy from LNB. The House-Brackmann scale was used to quantify the facial nerve dysfunction. RESULTS: Most patients presented in the summer months. Erythema migrans, frequently associated with systemic symptoms, occurred in 29 patients. Thirteen patients presented with bilateral facial palsy, usually with sequential involvement. Fourteen patients had painful radiculopathy. Of the 38 patients treated with antibiotics before the resolution of the palsy who had complete follow-up, 24 received both antibiotics and corticosteroids. Of these 38 patients, 34 recovered completely, 3 had nearly complete recovery, and 1 had moderate dysfunction. There were no differences between the treatment groups in achieving complete resolution of the palsy at 12 months or in time to complete recovery. INTERPRETATION: A history of rash compatible with erythema migrans or febrile illness in the weeks preceding the palsy are helpful clues pointing toward LNB and should be actively sought when evaluating patients with acute-onset peripheral facial palsy, particularly bilateral facial palsy. Treatment with antibiotic therapy is highly effective and most patients will fully recover facial nerve function. Adjunctive corticosteroid therapy appears to not affect the speed of recovery or overall outcome in this retrospective observational study.

Psychometric Validation of the FACE-Q Craniofacial Module for Facial Nerve Paralysis.

Background: Systematic reviews have identified the need for a patient-reported outcome measure for facial nerve paralysis (FNP). The aim of this study was to determine the psychometric properties of FACE-Q Craniofacial module scales when used in a combined sample of children and older adults with FNP. Methods: Data were collected between December 2016 and December 2019. We conducted qualitative interviews with children and adults with FNP. FACE-Q data were collected from patients aged 8 years and older with FNP. Rasch measurement theory analysis was used to examine the reliability and validity of the relevant scales in the FNP sample. Results: Twenty-five patients provided 2052 qualitative codes related to appearance, physical, psychological, and social function. Many patient concerns were common across age. The field-test sample included 235 patients aged 8-81 years. Of the 13 scales examined, all 122 items had ordered thresholds and good item fit to the Rasch model. For 12 scales, person separation index values were ≥0.79 and Cronbach's alpha values were ≥0.82. The 13th scale's reliability values were ≥0.71. Conclusion: The FACE-Q Craniofacial module scales described in this study can be used to collect and compare evidence-based outcome data from children and adults with FNP.

Superficial parotidectomy for chronic parotid sialadenitis: a case series and review of the literature.

OBJECTIVES: To report the clinical outcomes of patients with chronic parotid sialadenitis treated with superficial parotidectomy, and to review the literature. METHODS: A retrospective case series was conducted of all patients undergoing parotidectomy for chronic parotid sialadenitis at our institution between 2009 and 2018. RESULTS: Eighteen superficial parotidectomies were performed, resulting in complete symptom resolution in 17 patients. There was only one recurrence, of a milder form of the disease, requiring no specific treatment. Eight temporary post-operative facial nerve palsies and one permanent palsy occurred. Further complications included post-operative wound haematoma, seroma, Frey's syndrome, neuropathic pain and wound infection. CONCLUSION: Superficial parotidectomy is sufficient to control patient symptoms, avoiding the increased morbidity associated with near-total parotidectomy. The literature does not point to a clear difference in either the incidence of recurrence or the risk of a facial nerve palsy between the two procedures. Furthermore, the symptoms attributed to recurrence are often not severe enough to warrant salvage near-total parotidectomy.

Cranial Nerve Disorders Associated With Immune Checkpoint Inhibitors.

OBJECTIVE: To describe the spectrum, treatment, and outcome of cranial nerve disorders associated with immune checkpoint inhibitor (Cn-ICI). METHODS: This nationwide retrospective cohort study on Cn-ICI (2015-2019) was conducted using the database of the French Refence Center. In addition, a systematic review of the literature (MEDLINE, Scopus, and Web of Science) for records published between 2010 and 2019 was performed following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines using the search terms cranial nerve or neuropathy or palsy and immune checkpoint inhibitors. RESULTS: Among 67 cases with ICI-related neurologic toxicities diagnosed in our reference center, 9 patients with Cn-ICI were identified (7 men, 78%, median age 62 years [range 26-82 years]). Patients were receiving a combination of anti-cytotoxic T-lymphocyte antigen 4 and anti-programmed cell death 1 (PD-1)/PD-1 ligand (n = 5, 56%) or anti-PD-1 antibodies alone (n = 4, 44%). Cn-ICI involved optic (n = 3), vestibulocochlear (n = 3), abducens (n = 2), facial (n = 2), and oculomotor (n = 1) nerves. Two patients had involvement of 2 different cranial nerves. Treatment comprised corticosteroids (n = 8, 89%), ICI permanent discontinuation (n = 7, 78%), plasma exchange (n = 2, 22%), and IV immunoglobulin (n = 1, 11%). Median follow-up was 11 months (range 1-41 months). In 3 cases (33%), neurologic deficit persisted/worsened despite treatment: 2 optic and 1 vestibulocochlear. Among cases from the literature and the present series combined (n = 39), the most commonly affected cranial nerves were facial (n = 13, 33%), vestibulocochlear (n = 8, 21%), optic (n = 7, 18%), and abducens (n = 4, 10%). Trigeminal, oculomotor, and glossopharyngeal nerves were less frequently affected (total n = 7). CONCLUSION: Cranial nerve disorders can complicate treatment with ICIs. Approximately one-third of the patients had persisting deficits, most frequently involving hearing and vision loss.

Case Report: Ocular Tilt Reaction with Internuclear Ophthalmoplegia and Multiple Cranial Nerve Palsies.

SIGNIFICANCE: Ocular tilt reaction (OTR) is an abnormal eye-head postural reaction that consists of skew deviation, head tilt, and bilateral ocular torsion. Understanding of the pathway of the vestibulo-ocular reflex (VOR) is essential because this will help to localize the pathology. PURPOSE: The aim of this study was to report a case of OTR with contralateral internuclear ophthalmoplegia (INO) and fifth and seventh cranial nerve palsies. CASE REPORT: A 51-year-old gentleman with underlying diabetes mellitus presented with sudden onset of diplopia for 3 days. On examination, his visual acuity was 20/30 bilaterally without a relative afferent pupillary defect. He had a right OTR consisting of a right head tilt, a skew deviation with a left eye hypertropia, and bilateral ocular torsion (right excyclotorsion and left incyclotorsion) with nystagmus. He also had a left adduction deficit and right abduction nystagmus consistent with a left INO. Ocular examination revealed evidence of proliferative diabetic retinopathy bilaterally. Two days after the initial presentation, the patient developed left seventh and fifth cranial nerve palsies. MRI showed left pontine infarction and multiple chronic lacunar infarctions. There was an incidental finding of a vascular loop compression on cisternal portions of the left trigeminal, facial, and vestibulocochlear nerves. Antiplatelet treatment was started on top of a better diabetic control. The diplopia was gradually resolved with improved clinical signs. In this case, the left pontine infarction had likely affected the terminal decussated part of the vestibulocochlear nerve from the right VOR pathway, medial longitudinal fasciculus, and cranial nerve nuclei in the left pons. CONCLUSIONS: The OTR can be ipsilateral to the lesion if the lesion is before the decussation of the VOR pathway in the pons, or it can be contralateral to the lesion if the lesion is after the decussation. In case of an OTR that is associated with contralateral INO and other contralateral cranial nerves palsy, a pathology in the pons that is contralateral to the OTR should be considered. Neuroimaging study can hence be targeted to identify the possible cause.

Optic, trigeminal, and facial neuropathy related to anti-neurofascin 155 antibody.

OBJECTIVE: To characterize the frequency and patterns of optic, trigeminal, and facial nerve involvement by neuroimaging and electrophysiology in IgG4 anti-neurofascin 155 antibody-positive (NF155+ ) chronic inflammatory demyelinating polyneuropathy (CIDP). METHODS: Thirteen IgG4 NF155+ CIDP patients with mean onset age of 34 years (11 men) were subjected to neurological examination, blink reflex, and visual-evoked potential (VEP) testing, and axial and/or coronal T2-weighted head magnetic resonance imaging (MRI). RESULTS: Among 13 patients, facial sensory impairment, facial weakness, and apparent visual impairment were observed in three (23.1%), two (15.4%), and two (15.4%) patients, respectively. All 12 patients tested had blink reflex abnormalities: absent and/or delayed R1 in 11 (91.7%), and absent and/or delayed R2 in 10 (83.3%). R1 latencies had strong positive correlations with serum anti-NF155 antibody levels (r = 0.9, P ≤ 0.0001 on both sides) and distal and F wave latencies of the median and ulnar nerves. Absent and/or prolonged VEPs were observed in 10/13 (76.9%) patients and 17/26 (65.4%) eyes. On MRI, hypertrophy, and high signal intensity of trigeminal nerves were detected in 9/13 (69.2%) and 10/13 (76.9%) patients, respectively, whereas optic nerves were normal in all patients. The intra-orbital trigeminal nerve width on coronal sections showed a significant positive correlation with disease duration. INTERPRETATION: Subclinical demyelination frequently occurs in the optic, trigeminal, and facial nerves in IgG4 NF155+ CIDP, suggesting that both central and peripheral myelin structures of the cranial nerves are involved in this condition, whereas nerve hypertrophy only develops in myelinated peripheral nerve fibers.

Epineurial Pseudocyst of the Intratemporal Facial Nerve: A Case Series Study.

OBJECTIVES: The goal of this case series was to describe the clinical and radiological characteristics of epineurial pseudocysts of the intratemporal facial nerve (EPIFs) and to discuss the relevance in clinical practice. MATERIALS AND METHODS: A retrospective case series of 10 consecutive patients with EPIFs identified through computed tomography (CT), between 2009 and 2018. Morphological characteristics, coexisting pathology, facial nerve function, and evolution over time were analyzed. RESULTS: A unilateral EPIF was found in 5 patients (50%) and a bilateral EPIF was found in the other 5 (50%). The largest dimensions were observed in the coronal plane, with an average craniocaudal length of 6.0 mm (range, 3-9 mm). None of the patients presented with facial nerve dysfunction. Growth could not be observed in any of the patients. In 5 cases (33.3%), CT imaging showed a reduced transmastoid access to the facial recess caused by the EPIF. CONCLUSION: All EPIFs in this study were incidental findings. Facial nerve function was normal in all patients. Knowledge of EPIFs is important to perform safe cholesteatoma and cochlear implant surgery and to prevent unnecessary follow-up imaging.

Stapedectomy in patients with dehiscent and prolapsed facial nerve.

OBJECTIVE: The aim of this study is to apply the modified stapedectomy technique in cases with dehiscent and prolapsed facial nerve canal, and to compare the postoperative results with those with normal facial nerve canal anatomy. MATERIAL AND METHOD: 28 patients who underwent primary stapedectomy were included. Of the patients, 17 were in the normal anatomical facial nerve group, and 11 were in the dehiscent and prolapsed facial nerve group. Facial nerve was retracted with micro elevator in dehiscent and prolapsed group. and Titanium-Teflon prosthesis was angled and used in accordance with facial nerve course at this group. RESULT: No facial paresis or paralysis was observed in any patient postoperatively. In the first year, no significant difference was found in terms of air-bone gap. CONCLUSION: It is safe to retract the facial nerve for a limited time in cases of stapedectomy in cases with dehiscent and prolapsed facial nerve canal. In these cases, modifying the stapedial prosthesis in accordance with the facial nerve course does not cause disadvantage in terms of hearing gain.

Postoperative Functional Preservation of Facial Nerve in Cystic Vestibular Schwannoma.

OBJECTIVE: To retrospectively analyze clinical and surgical data of a consecutive series of 26 patients with unilateral cystic vestibular schwannomas. METHODS: Tumors were classified as type A (central cyst) and type B (peripheral cyst) and as small (tumor diameter <3 cm) and large (tumor diameter >3 cm). All patients underwent microsurgical removal via retrosigmoid approach. The course of the facial nerve (FN) was classified as anterior, anterior-inferior, anterior-superior, and dorsal to the tumor's surface. RESULTS: Mean patient age was 53.5 years. Mean tumor size was 3.2 cm. There were 22 cases classified as type A and only 4 as type B. Total or near-total resection (>95%) was achieved in 16 cases (61.5%), subtotal removal (90%-95%) was achieved in 9 cases (34.6%), and partial removal (<90%) was achieved in 1 case (3.9%). Position pattern of FN was anterior-inferior in 10 cases (38.4%), anterior-superior in 10 cases (38.4%), anterior in 23.2% of 6 cases. At hospital discharge, FN function was House-Brackmann grade I-V in 9 (36%), 10 (38%), 3 (12%), 3 (12%), and 1 (4%) patients; at final follow-up, House-Brackmann grades I, II, III, and IV accounted for 18 (72%), 6 (24%), 1, and 1 cases. During follow-up ranging from 6 months to 10 years, reoperation for growing of residue was never necessary. CONCLUSIONS: According to the literature and the results of our series, microneurosurgery of cystic vestibular schwannomas is associated with good outcomes in terms of extent of resection and FN function. In particular, long-term FN function is much more satisfactory than short-term function. In most cases, microsurgery represents the treatment of choice of cystic vestibular schwannomas.

Recurrent facial palsy: The prognostic value of electrophysiological tests according to recurrence interval.

OBJECTIVE: The prognostic value of nerve excitability tests (NET) and electroneurography (ENoG) for recurrent peripheral facial palsy is poorly understood. This study aimed to evaluate the association between NET/ENoG results for the current palsy and recovery. METHODS: We extracted data on patients who were referred to our hospital (2005-2017). Adult patients with recurrent peripheral facial palsy who underwent NET and ENoG within 3 weeks of onset were retrospectively analyzed (n = 26). Favorable recovery was defined as the achievement of either House-Brackmann grade I/II or the same level of facial movement as before the current palsy. We evaluated the predictive NET/ENoG results by making comparison between the favorable recovery group and the unfavorable recovery group, which were subdivided based on the length of time after the previous palsy. RESULTS: In terms of patients with a >4-year recurrent interval, 8 out of 12 patients achieved favorable recovery. Compared to the favorable recovery group, the unfavorable recovery group had significantly higher NET results (9.03 mA vs. -1.08 mA, p = 0.017). Also, the unfavorable recovery group had significantly higher NET results in patients with a >2-year recurrent interval (9.03 mA vs. 1.06 mA, p = 0.036). However, other test results (NET in ≤4-year recurrent interval/all 26 patients, and ENoG in >4-year recurrent interval/≤4-year recurrent interval/all 26 patients) did not differ significantly between patients with favorable and unfavorable recovery. CONCLUSION: NET might be a useful prediction method in patients with at least a few years interval between the previous and the current palsy.

Amphiphysin-IgG autoimmune neuropathy: A recognizable clinicopathologic syndrome.

OBJECTIVE: To define the clinicopathologic features of amphiphysin-immunoglobulin G (IgG)-mediated neuropathy. METHODS: Patients examined at our institution from January 1, 1995, to September 30, 2018, with amphiphysin-IgG by indirect immunofluorescence and Western blot, were reviewed. Their phenotypes were compared to cases of coexisting collapsin response-mediator protein-5 (CRMP5)-IgG or anti-neuronal nuclear antibody type 1 (ANNA1-IgG) and CRMP5-IgG autoimmunity. Improvement in modified Rankin Scale (mRS) (≥1) on follow-up was considered a favorable outcome. Amphiphysin RNA expression was assessed in healthy nerves. RESULTS: Fifty-three amphiphysin-IgG-positive cases were identified. Of 33 (60%) patients with neuropathy, 21 had amphiphysin-IgG alone, and 12 had coexisting autoantibodies (ANNA1-IgG, n = 8; CRMP5-IgG, n = 2; ANNA1-IgG and CRMP5-IgG, n = 2). The neuropathies in isolated amphiphysin-IgG autoimmunity included polyradiculoneuropathy (62%), diffuse sensory neuronopathy (35%), and facial neuropathy with gastroparesis (3%). Among these, pain (80%), breast cancer (63%), and CNS (57%) involvements commonly coexisted, and neuropathy frequently prompted breast cancer diagnosis (76%). Stiff-person spectrum disorder was the most common CNS accompaniment (45%). Nerve biopsies showed axonal loss (n = 6/6), subperineurial edema (n = 4/6), and CD4 predominant inflammation (n = 2/6). Median mRS score at last follow-up was 3.5; 58% of patients were immunotherapy-responsive. Patients with amphiphysin-IgG alone had more favorable immunotherapy response than patients with CRMP5-IgG polyneuropathy (n = 45) (44% vs 16%, p = 0.028, odds ratio 4.2, 95% confidence interval 1.1 to 15.5). Only 1/9 (11%) patients with amphiphysin-IgG with coexisting CRMP5-IgG or ANNA1-IgG had immunotherapy response. RNA amphiphysin expression occurred at low levels in nerve. CONCLUSION: Amphiphysin-IgG autoimmune neuropathy has a recognizable phenotype, is frequently immune responsive, and can prompt early diagnosis of breast cancer.

Will the real Moebius syndrome please stand up? A systematic review of the literature and statistical cluster analysis of clinical features.

Moebius syndrome is a highly variable syndrome with abducens and facial nerve palsy as core features. Strict diagnostic criteria do not exist and the inconsistency of the associated features makes determination difficult. To determine what features are associated with Moebius syndrome we performed a systematic literature review resulting in a composite case series of 449 individuals labeled with Moebius syndrome. We applied minimum criteria (facial and abducens palsy) to determine the prevalence of associated clinical features in this series. Additionally, we performed statistical cluster analysis to determine which features tended to occur together. Our study comprises the largest series of patients with Moebius syndrome and the first to apply statistical methodology to elucidate clinical relationships. We present evidence for two groups within the Moebius diagnosis. Type 1: exhibiting micrognathia, limb anomalies and feeding/swallowing difficulty that tend to occur together. Type 2: phenotypically diverse but more associated with radiologically detectable neurologic abnormalities and developmental delay.

Decreased Distance between Representation Sites of Distinct Facial Movements in Facial Synkinesis-A Task fMRI Study.

This study aimed to investigate the cortical functional alterations in patients with unilateral facial synkinesis using the task-designed functional magnetic resonance imaging. Fourteen unilateral synkinesis followed by peripheral facial nerve palsy patients and eighteen healthy adults were recruited in this study. Four facial motor tasks, i.e. left/right blinking and left/right smiling, were performed by each subject during the scans. Based on the activation maps, the spatial distance between the representation sites in the contralateral pre-/post-central gyrus of left or right blinking and smiling tasks (i.e. left/right B-S-distance) were calculated. Patients with unilateral facial synkinesis showed decreased B-S-distances during blinking and smiling tasks on the affected half face (9.68 ±â€¯3.92 mm) compared to both average distances in healthy controls (14.95 ±â€¯5.55 mm; p = 0.002) and unaffected half face tasks in patients (16.19 ±â€¯7.87 mm; p = 0.011). These findings demonstrated cortical reorganization in facial synkinesis and suggested a conceivable mechanism corresponding to the simultaneous facial movement. This potentially provides a new modulation target for preventive, therapeutic and rehabilitative maneuver of this disease.

Facial Onset Motor and Sensory Neuronopathy Syndrome With a Novel TARDBP Mutation.

INTRODUCTION: Facial onset sensory and motor neuronopathy (FOSMN) syndrome was a rare and slowly progressive neurodegenerative disorder, which heralded by sensory symptoms within the face, and followed by evolution of sensory and motor deficits in the face and limbs. The underlying pathogenesis of FOSMN remains to be fully elucidated. CASE REPORT: A 40-year-old man was admitted to our hospital with facial sensory deficits spreading in a rostral-caudal manner. He then developed diffuse fasciculation, bulbar signs, atrophy and weakness of facial, neck, and limb muscles progressively, a process resembling amyotrophic lateral sclerosis. Neurophysiological studies demonstrated abnormal blink reflexes and some denervation-reinnervation changes in electromyogram. He was diagnosed with FOSMN syndrome clinically. A novel heterozygous Gly386Glu mutation in the transactive response DNA-binding protein (TARDBP) gene was found. The patient had no response to immunologic treatment and finally died of respiratory failure. CONCLUSIONS: This is the first time that a novel mutation in TARDBP gene was identified in a patient with FOSMN syndrome, which further suggested a link between FOSMN and amyotrophic lateral sclerosis. Our findings widen the spectrum of TARDBP-related motor neuron diseases.