Natural history of facial paraganglioma with 2 decades of follow-up: A case report and literature review.

OBJECTIVE: To report 20 years of natural history data for a facial paraganglioma and provide a comprehensive review of the existing literature. PATIENT: 81-year-old female with a remote history of cardiac arrest while under anesthesia who elected to observe her facial paraganglioma for 20 years. INTERVENTIONS: Observation, clinical documentation, radiographic surveillance. MAIN OUTCOME MEASURES: Tumor progression, patient symptomatology, and review of management options. RESULTS: The initial presentation of the facial paraganglioma was facial spasm. Over the course of observation, symptoms progressed to include complete facial nerve paralysis, pulsatile tinnitus, and otalgia on the affected side. Radiologic surveillance demonstrated incremental growth and erosion of surrounding structures, including the posterior external auditory canal, stylomastoid foramen, and lateral semicircular canal with near-dehiscence. Twenty-four cases of facial paraganglioma were identified in the extended literature search and are summarized herein. CONCLUSIONS: This unique case contributes to the scarce literature surrounding facial paragangliomas by reporting the extended natural history of this disease.

Idiopathic Intracranial Hypertension Triggering Hemifacial Spasm.

ABSTRACT: Idiopathic intracranial hypertension (IIH) is a syndrome associated with increased intracranial pressure without a clear underlying cause that is classically seen in young women. Patients typically present with headache and ocular findings, including disc edema and, less frequently, an abduction deficit. To make a diagnosis of IIH, other than cranial nerve 6 or 7 dysfunction, patients must have a normal neurologic examination. When cranial nerve 7 is affected patients can present with hemifacial spasm. We present the case of a young woman with IIH who had hemifacial spasm as one of the presenting symptoms. Her symptoms resolved once she was treated for IIH with acetazolamide.

Facial Nerve Involvement Accompanying Optic Neuritis Secondary to Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disorder.

ABSTRACT: We present the first reported case of facial nerve involvement accompanying an optic neuritis in myelin oligodendrocyte glycoprotein antibody-associated disorder.

Absent pyramidal eminence and stapedial tendon associated with congenital stapes footplate fixation: Intraoperative and radiographic findings.

OBJECTIVE: Report an association between congenital stapes footplate fixation (CSFF) and radiological absence of the pyramidal eminence and stapedial tendon. PATIENTS: Children and adults with intraoperatively confirmed CSFF and an absent stapedial tendon. INTERVENTIONS: Computed tomography (CT); exploratory tympanotomy with stapedotomy. MAIN OUTCOME MEASURES: Absence of a pyramidal eminence and stapedial tendon aperture identified on preoperative CT that was confirmed intraoperatively. RESULTS: Eight patients with intraoperative confirmation of CSFF and absent stapedial tendon were retrospectively identified. The average preoperative bone conduction and air conduction pure tone averages were 19.6 dB (SD 15.6 dB) and 55.9 dB (SD 23.6 dB), respectively. The average air-bone gap was 36.3 dB (SD 17.9 dB) preoperatively. In the seven patients who underwent preoperative CT, all were consistently identified to have an absent or hypoplastic pyramidal eminence and absent stapedial tendon aperture at the pyramidal eminence. In six cases, the stapedial footplate appeared normal, while in one case the footplate appeared abnormal which correlated with severe facial nerve prolapse observed intraoperatively. All eight cases underwent exploratory tympanotomy and demonstrated intraoperative stapes footplate fixation, absent stapedial tendon and either absent or hypoplastic pyramidal eminence, which correlated with preoperative CT findings. CONCLUSIONS: This study identifies a clinically pragmatic association between an absent pyramidal eminence identified on high-resolution CT and the diagnosis of CSFF. In a condition that otherwise generally lacks distinctive radiological features, the absence of a pyramidal eminence on CT in a patient with nonprogressive, congenital conductive hearing loss may strengthen clinical suspicion for CSFF.

Facial myokymia in inherited peripheral nerve hyperexcitability syndrome.

Peripheral nerve hyperexcitability syndrome comprises a heterogeneous group of diseases, clinically characterised by myokymia, fasciculation, muscle cramps and stiffness. The causes are either immune mediated or non-immune mediated. Non-immune-mediated forms are mostly genetic, relating to two main genes: KCNQ2 and KCNA1 Patients with KCNQ2 gene mutations typically present with epileptic encephalopathy, benign familial neonatal seizures and myokymia, though occasionally with purely peripheral nerve hyperexcitability. We report a woman with marked facial myokymia and distal upper limb contractures whose mother also had subtle facial myokymia; both had the c.G620A (p.R207Q) variant in the KCNQ2 gene. Patients with familial myokymia and peripheral nerve hyperexcitability syndrome should be investigated for KCNQ2 variants. This autosomal dominant condition may respond to antiepileptic medications acting at potassium channels.

Microglia lacking a peroxisomal ß-oxidation enzyme chronically alter their inflammatory profile without evoking neuronal and behavioral deficits.

BACKGROUND: Microglia play a central role in most neurological disorders, but the impact of microgliosis on brain environment and clinical functions is not fully understood. Mice lacking multifunctional protein-2 (MFP2), a pivotal enzyme in peroxisomal ß-oxidation, develop a fatal disorder characterized by motor problems similar to the milder form of MFP2 deficiency in humans. The hallmark of disease in mice is the chronic proliferation of microglia in the brain, but molecular pathomechanisms that drive rapid clinical deterioration in human and mice remain unknown. In the present study, we identified the effects of specific deletion of MFP2 from microglia in the brain on immune responses, neuronal functioning, and behavior. METHODS: We created a novel Cx3cr1-Mfp2-/- mouse model and studied the impact of MFP2 deficiency on microglial behavior at different ages using immunohistochemistry and real-time PCR. Pro- and anti-inflammatory responses of Mfp2-/- microglia were assessed in vitro and in vivo after stimulation with IL-1ß/INFγ and IL-4 (in vitro) and LPS and IL-4 (in vivo). Facial nerve axotomy was unilaterally performed in Cx3cr1-Mfp2-/- and control mice, and microglial functioning in response to neuronal injury was subsequently analyzed by histology and real-time PCR. Finally, neuronal function, motor function, behavior, and cognition were assessed using brainstem auditory evoked potentials, grip strength and inverted grid test, open field exploration, and passive avoidance learning, respectively. RESULTS: We found that Mfp2-/- microglia in a genetically intact brain environment adopt an inflammatory activated and proliferative state. In addition, we found that acute inflammatory and neuronal injury provoked normal responses of Mfp2-/- microglia in Cx3cr1-Mfp2-/- mice during the post-injury period. Despite chronic pro-inflammatory microglial reactivity, Cx3cr1-Mfp2-/- mice exhibited normal neuronal transmission, clinical performance, and cognition. CONCLUSION: Our data demonstrate that MFP2 deficiency in microglia causes intrinsic dysregulation of their inflammatory profile, which is not harmful to neuronal function, motor function, and cognition in mice during their first year of life.

Eight Syndrome: Horizontal Gaze Palsy Plus Ipsilateral Seventh Nerve Palsy.

A 62-year-old woman developed a right horizontal gaze palsy and ipsilateral facial nerve palsy due to a right pontine tegmentum infarct. This constitutes a forme fruste of the eight-and-a-half syndrome that we have termed the eight syndrome.

A hybrid technique to address exposure keratopathy secondary to facial nerve paresis: A combination of a lateral tarsorrhaphy and lateral wedge resection.

PURPOSE: To present the results of treating combined lower eyelid laxity, retraction and midface descent secondary to facial nerve weakness with a hybrid surgical procedure. MATERIALS AND METHODS: A retrospective analysis of patients from January 2015 to January 2017 who underwent a hybrid surgical technique for the treatment of corneal exposure secondary to facial nerve paresis with a single surgeon was performed. Age, gender, and presence of exposure symptoms were recorded pre-operatively. Outcomes assessed included improvement of lower eyelid laxity and position, operative complications, and post-operative symptomatic relief. RESULTS: A total of 11 patients underwent unilateral eyelid surgery. All patients had symptomatic relief and good functional outcomes defined as improvement in eyelid laxity, lower eyelid position, and objective corneal exposure. No cases required reoperation during an average follow up of 174.5 days. CONCLUSIONS: Combining portions of a tarsorrhaphy and lateral wedge resection technique is a simple and effective procedure to improve lower eyelid position and limit corneal exposure secondary to facial nerve paresis.

DEVELOPMENT OF GANGLIONOPATHY AND TABETIC VISCERAL CRISES ON THE BACKGROUND OF POLYRADICULONEUROPATHY ASSOCIATED WITH MONOCLONAL GAMMOPATHY (CASE REPORT).

The article presents an analysis of the clinical occurrence of development of chronic polyradiculoneuropathy associated with monoclonal IgG/k (kappa) gammopathy of the undetermined significance. The peculiarity of this occurrence is the uniqueness of the development of the symptoms which are characteristic of tabes dorsalis in this pathology with episodic severe visceral crises and also with ganglionopathy. The example describes the clinical polymorphism of the course of visceral crises, the problems of their diagnosis and as a consequence of inadequate treatment with the development of severe social maladaptation. The importance of timely diagnosis and treatment of such conditions is discussed.

Intratemporal facial nerve schwannoma: clinical presentation and management.

Facial nerve schwannoma is the most common facial nerve tumor, but its therapeutic strategy remains debated. The aim of this study is to analyze the facial nerve function and the hearing outcomes after surgery or wait-and-scan policy in a facial nerve schwannoma series. A monocentric retrospective review of medical charts of patients followed for an intratemporal facial nerve schwannoma between 1988 and 2013 was performed. Twenty-two patients were included. Data were extracted pertaining to the following variables: patient demographics, tumor localization, clinical and imaging features, facial nerve function and hearing levels, and details of surgical intervention. The majority of tumors were located at the geniculate ganglion. Initial symptoms were mainly facial palsy and hearing loss. The average follow-up was 4.8 ± 4.5 years. Nineteen patients underwent surgery, and three patients were observed. After surgery, 11 patients had a stable or improved facial nerve function (57.9 %), and 8 patients had a worsened facial nerve function (42.1 %). Facial nerve function was in the majority of cases a HB grade III, depending on surgical strategy. No patient presented a postoperative HB grade V or VI. Regarding the hearing, it remained stable after surgery in 52.6 % of cases, and improved in 10.5 % of cases. Among monitored patients, facial nerve function and hearing remained stable. Surgery for facial nerve schwannoma is a safe and effective option in the treatment of these tumors.

Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.

OBJECTIVE: To identify the cause of childhood onset involuntary paroxysmal choreiform and dystonic movements in 2 unrelated sporadic cases and to investigate the functional effect of missense mutations in adenylyl cyclase 5 (ADCY5) in sporadic and inherited cases of autosomal dominant familial dyskinesia with facial myokymia (FDFM). METHODS: Whole exome sequencing was performed on 2 parent-child trios. The effect of mutations in ADCY5 was studied by measurement of cyclic adenosine monophosphate (cAMP) accumulation under stimulatory and inhibitory conditions. RESULTS: The same de novo mutation (c.1252C>T, p.R418W) in ADCY5 was found in both studied cases. An inherited missense mutation (c.2176G>A, p.A726T) in ADCY5 was previously reported in a family with FDFM. The significant phenotypic overlap with FDFM was recognized in both cases only after discovery of the molecular link. The inherited mutation in the FDFM family and the recurrent de novo mutation affect residues in different protein domains, the first cytoplasmic domain and the first membrane-spanning domain, respectively. Functional studies revealed a statistically significant increase in ß-receptor agonist-stimulated intracellular cAMP consistent with an increase in adenylyl cyclase activity for both mutants relative to wild-type protein, indicative of a gain-of-function effect. INTERPRETATION: FDFM is likely caused by gain-of-function mutations in different domains of ADCY5-the first definitive link between adenylyl cyclase mutation and human disease. We have illustrated the power of hypothesis-free exome sequencing in establishing diagnoses in rare disorders with complex and variable phenotype. Mutations in ADCY5 should be considered in patients with undiagnosed complex movement disorders even in the absence of a family history.

Lip Forces and Chewing Efficiency in Children with Peripheral Facial Paralysis.

Peripheral facial paralysis is accompanied by facial motor disorders and also, by oral dysfunctions. The aim of this study was to evaluate the lip forces and chewing efficiency in a group of children with peripheral facial paralysis. The degree of peripheral facial paralysis in the study group (n 11) was assessed using the House-Brackmann scale. The control group consisted of 21 children without facial nerve impairment. To assess lip forces, acrylic vestibular plates of three sizes were used: large (LVP), medium (MVP) and small (SVP). The lip force was recorded with a force transducer coupled with the data acquisition system. Masticatory efficiency was evaluated by the ability to mix two differently colored chewing gums. The images were processed with Adobe Photoshop CS3 (Delaware Corporation, San Jose, California, United States) and the number of pixels was quantified with the Image J software (DHHS/NIH/NIMH/RSB, Maryland, United States). For statistical analysis, the following statistical analysis were used: Pearson or Spearman correlation coefficient, multiple linear regression analysis, multiple logistic regression analysis, and optimal cutoff values for muscular dysfunction. There were statistically significant differences between lip forces in the following three groups: p=0.01 (LVP), p=0.01 (MVP), and p=0.008 (SVP). The cutoff values of lip forces in the study group were as follows: 7.08 N (LVP), 4.89 N (MVP), and 4.24 N (SVP). There were no statistically significant differences between the masticatory efficiency in the two groups (p=0.25). Lip forces were dependent on the degree of peripheral facial paralysis and age, but not on gender. In peripheral facial paralysis in children, a significant decrease of lip forces, but not masticatory efficiency, occurs.

The Therapeutic Effect of Stellate Ganglion Block on Facial Nerve Palsy in Patients with Type 2 Diabetes Mellitus.

BACKGROUND/AIMS: The conventional systemic corticosteroid treatment for acute peripheral facial nerve palsy in patients with type 2 diabetes mellitus can induce hyperglycemia, and an alternative local therapy may be necessary. Our purpose in this study is to evaluate therapeutic effects of stellate ganglion block (SGB) on facial nerve palsy in patients with type 2 diabetes mellitus. METHODS: A total of 361 cases of acute peripheral, chronic peripheral, acute central and chronic central facial nerve palsy treated with SGB or conventional therapy were included in this retrospective study. The facial nerve function score (Sunnybrook Facial Grading System) obtained at before and after treatment in non-SGB and SGB groups was used to assess the outcome. Furthermore, the blood glucose level in acute peripheral facial nerve palsy was measured. RESULTS: The facial nerve function score in the SGB group was higher than that in the non-SGB group after treatment in peripheral facial nerve palsy, while the blood glucose level in the non-SGB group increased and was higher than that in the SGB group during the treatment in acute peripheral facial nerve palsy. CONCLUSIONS: Our findings suggest that SGB has better therapeutic effect than conventional treatment on acute and chronic peripheral facial nerve palsy in patients with type 2 diabetes mellitus.

Surgical outcomes of facial nerve hemangiomas in temporal bones.

OBJECTIVE: To report surgical outcomes of 15 cases who had facial nerve hemangiomas. METHODS: All cases underwent complete removal of hemangiomas, and preservation of nerve integrity was attempted. The postoperative outcomes of facial nerve was assessed. RESULTS: Nerve integrity was successfully preserved in 10 cases, all of which maintained or recovered to Grade I or Grade II, and facial nerve was sacrificed in 5 cases, who recovered to Grade III or Grade IV. CONCLUSIONS: When possible, facial nerve preservation should be attempted, which was critical to yield better outcomes of facial nerve.

Correlations between the clinical, histological and neurophysiological examinations in patients before and after parotid gland tumor surgery: verification of facial nerve transmission.

Parotid gland tumor surgery sometimes leads to facial nerve paralysis. Malignant more than benign tumors determine nerve function preoperatively, while postoperative observations based on clinical, histological and neurophysiological studies have not been reported in detail. The aims of this pilot study were evaluation and correlations of histological properties of tumor (its size and location) and clinical and neurophysiological assessment of facial nerve function pre- and post-operatively (1 and 6 months). Comparative studies included 17 patients with benign (n = 13) and malignant (n = 4) tumors. Clinical assessment was based on House-Brackmann scale (H-B), neurophysiological diagnostics included facial electroneurography [ENG, compound muscle action potential (CMAP)], mimetic muscle electromyography (EMG) and blink-reflex examinations (BR). Mainly grade I of H-B was recorded both pre- (n = 13) and post-operatively (n = 12) in patients with small (1.5-2.4 cm) benign tumors located in superficial lobes. Patients with medium size (2.5-3.4 cm) malignant tumors in both lobes were scored at grade I (n = 2) and III (n = 2) pre- and mainly VI (n = 4) post-operatively. CMAP amplitudes after stimulation of mandibular marginal branch were reduced at about 25 % in patients with benign tumors after surgery. In the cases of malignant tumors CMAPs were not recorded following stimulation of any branch. A similar trend was found for BR results. H-B and ENG results revealed positive correlations between the type of tumor and surgery with facial nerve function. Neurophysiological studies detected clinically silent facial nerve neuropathy of mandibular marginal branch in postoperative period. Needle EMG, ENG and BR examinations allow for the evaluation of face muscles reinnervation and facial nerve regeneration.

Meibomian Gland Dysfunction in Cranial Nerve VII Palsy.

PURPOSE: To examine clinical findings on meibomian gland dysfunction (MGD) in patients with unilateral cranial nerve VII (CN VII) palsy. METHODS: This prospective observational study included 35 patients with unilateral CN VII palsy. The following features were compared between the affected and the unaffected sides: incidence of eyelid abnormalities (irregular eyelid margin, vascular engorgement, and plugged meibomian gland orifices), Marx line score, meibom expression score, area and density scores for corneal fluorescein staining, Schirmer test I (without topical anesthesia), and tear break-up time. RESULTS: The affected side demonstrated significantly higher incidences of vascular engorgement (p = 0.004) and plugged meibomian gland orifices (p < 0.001) than the unaffected side. The incidence of an irregular eyelid margin was similar for both sides (p = 0.168). The scores for the Marx line (p < 0.001), meibom expression (p < 0.001), area (p = 0.034), and density (p = 0.026) were significantly higher for the affected side than for the unaffected side. The affected side showed a significantly higher Schirmer value than the unaffected side (p = 0.030). Tear break-up time was significantly shorter on the affected side than on the unaffected side (p = 0.023). CONCLUSIONS: MGD was more markedly demonstrated on the affected side in patients with unilateral CN VII palsy.

Long-Term Outcome of Combined Lateral Tarsal Strip With Temporal Permanent Tarsorrhaphy for Correction of Paralytic Ectropion Caused By Facial Nerve Palsy.

Paralytic ectropion caused by facial nerve palsy often requires surgical intervention for cornea protection. In this study, the authors intended to investigate the long-term surgical outcome of their surgical technique of correcting paralytic ectropion, which is a combined lateral tarsal strip and minimal temporal permanent tarsorrhaphy. The authors performed a retrospective chart review of patients who underwent paralytic ectropion repair by combined lateral tarsal strip with minimal temporal permanent tarsorrhaphy (5  mm) from January 2010 to December 2012. Patients with at least 1 year of follow-up were included. An analysis of preoperative and postoperative measurements included the extent of lagophthalmos, grade of superficial punctate keratopathy (SPK), and tear break-up time (tBUT). The study included 22 patients and a total of 22 eyes. The lagophthalmos, grade of SPK, and tBUT at both 1 month and 1 year of postoperative follow-up were all significantly improved compared with preoperatively (all P < 0.01). At 1 year after surgery, the mean SPK grade and tBUT were slightly, but not significantly, worse than at 1 month after surgery (P = 0.716 and P = 0.632, retrospectively). Three patients were not satisfied with the aesthetic appearance; however, no patient required additional surgery to enhance eyelid closure because of ectropion recurrence or to reopen the tarsorrhaphy during long-term follow-up. Combined lateral tarsal strip with minimal temporal permanent tarsorrhaphy is a quick, safe, and effective surgical technique for the treatment of lower eyelid paralytic ectropion. It produces minimal cosmetic disfigurement and low morbidity during long-term follow-up.

Facial nerve canal dehiscence in chronic otitis media without cholesteatoma.

The information on incidence of the facial nerve canal dehiscence in chronic otitis media is important for surgeons. The purpose of this study is to disclose the histopathologic findings of facial nerve canal dehiscence in human temporal bones with chronic otitis media. We divided the human temporal bones into two groups (age 4 years, and under 4 years of age). We evaluated the incidence and the area of the facial nerve canal dehiscence in chronic otitis media under light microscopy. Age-matched normal control temporal bones were also examined. In the age group of 4 years, 68.9 % of temporal bones with chronic otitis media and 71.9 % of controls had the facial nerve canal dehiscence. There was no significant difference between them (P = 0.61). The area of the dehiscence in temporal bones with chronic otitis media was not statistically different from controls (P = 0.53). In the age group under 4 years, 88.2 % of temporal bones with chronic otitis media and 76.5 % of controls had the dehiscence. No significant difference was found between them (P = 0.66). The area of the dehiscence in temporal bones with chronic otitis media was not statistically different from controls in the age group under 4 years (P = 0.43). In chronic otitis media, the incidence of facial nerve canal dehiscence was high and was not statistically different from controls. These results suggest that there is no association between chronic otitis media and the presence of facial nerve canal dehiscence.

Coexistence of scutum defect and facial canal dehiscence.

In this study, we have discussed the facial canal dehiscence rates in patients with scutum defect, who had undergone surgery with the diagnosis of chronic otitis media with or without cholesteatoma. The operation records of 154 patients who had undergone tympanomastoidectomy with the diagnosis of chronic otitis media with or without cholesteatoma were retrospectively analyzed. Scutum defect was investigated by inspection under direct high magnification following tympanomeatal flap elevation during the operation. Facial canal dehiscence was evaluated by inspection and through palpation by blunt picking after the pathological tissues had been removed. The rate of scutum defect was determined as 29.22% (45 out of 154 patients), and the rate of facial canal dehiscence was determined as 22.07% (34 out of 154 patients). While facial canal dehiscence was encountered in 55.55% of the patients with scutum defect, this rate was determined as 8.25% in patients without scutum defect. While the tympanic segment was the most commonly affected segment of the facial canal, isolated mastoid segment involvement was encountered in only 1 (2.94%) patient. The presence of scutum defect is a significant finding for the prediction of the extent of the disease and facial canal dehiscence. Thus, the surgeon should pay more attention to avoid facial nerve injury during the operation in the patient in whom a scutum defect is detected.