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Hereditary congenital facial palsy (HCFP) is a medical condition caused by dysfunction of the seventh cranial nerve. HCFP is characterized by feeding difficulties and dysmorphic features in the orofacial region. In some cases hearing loss, strabismus, limb malformations, and musculoskeletal defects may be associated. There are three types of HCFP: HCFP3 (OMIM 614744) results from autosomal recessive pathogenic variants in the HOXB1 gene, while HCFP1 and 2 (OMIM 601471, 604185) are autosomal dominant, genetically less defined conditions. We report on a case of congenital bilateral facial palsy due to two novel compound heterozygous variants in the HOXB1 gene, found by exome sequencing (ES), in a child with facial nerve axonal neuropathy without evidence of nerve hypoplasia on neuroimaging. The results of this report suggest that in individuals with congenital facial paralysis and preserved ocular motor skills, with or without facial nerve hypoplasia and with confirmed facial nerve axonal neuropathy, HOXB1 variants and therefore a diagnosis of HCFP3 should be primarily considered.

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AIM: To evaluate the effect of concentrated growth factor (CGF) on regeneration of facial nerve after crush injury. MATERIALS AND METHODS: Fourteen rats were randomized into two groups. The control group (CG) (n=7) received a crush injury to the right facial nerve. The CGF group (CGFG) (n=7) received a crush injury to the right facial nerve and concentrated growth factor prepared from their own blood thereafter. Left facial nerves were used for functional comparison. Nerve function was evaluated using whisker movements and electromyography. Histologic properties were evaluated using hematoxylin and eosin and Masson-trichrome staining, and immunohistochemical properties were evaluated using Neurofilament-H and Anti-Tau degeneration markers. RESULTS: In the CGFG, whisker functions began to recover earlier and recovered more quickly compared with the CG. The CG showed significantly prolonged latency and reduced amplitudes in the first week compared with the CGFG (p<0.05). Recordings of 4th-week latency and amplitudes were similar to the preoperative period in the CGFG (p>0.05), whereas recordings of the same week were significantly worse in the CG (p<0.05). Edema and fibrosis were also more pronounced in the CG compared with the CGFG. Neurofilament-H and Anti-Tau were at significantly high levels in the CG (p<0.05). CONCLUSION: Concentrated growth factor promotes recovery in facial crush injury and may prove a cost-effective, practical, and effective treatment choice in peripheral nerve injury.

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AIM: We aimed to investigate the causes of acute peripheral facial palsy (PFP) in Danish children and to explore whether neuroborreliosis-related PFP could be diagnosed without lumbar puncture using clinical symptoms and serum Borrelia burgdorferi (Bb) antibodies. METHODS: This retrospective population-based cohort study included children undergoing lumbar puncture for PFP between 2019 and 2023 in Denmark's Capital Region. Diagnostic performance measures for neuroborreliosis-related PFP were compared between serum Bb IgG alone and clinical risk scores combining Bb IgG with clinical parameters. RESULTS: Of the 326 patients with PFP, 137 (42%) were diagnosed with neuroborreliosis and 151 (46%) had Bell's palsy. Positive predictive value for serum Bb IgG alone was 88% (95% CI 79-93) and negative predictive value was 83% (95% CI 75-88). The positive predictive value of a risk score with seven additional parameters was 90% (95% CI 81-95) and negative predictive value 87% (95% CI 80-92). CONCLUSION: The positive predictive value of serum Bb IgG alone was high in our setting, where nearly half of children with PFP had neuroborreliosis. In high endemic settings, lumbar punctures may be reduced by (i) treating all children with PFP with doxycycline or (ii) treating Bb IgG positive children and performing lumbar puncture in seronegative children.

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Although central nervous system infection following varicella zoster virus infection is relatively common, subsequent peripheral nervous system infection is comparatively rare. The present case documents a case of meningitis after varicella-zoster virus (VZV) infection, which was then followed by peripheral facial palsy. Specifically, a 54-year-old female patient was first admitted to Shengli Oilfield Central Hospital (Dongying, China) with headache and fever. Physical examination revealed herpes that formed along the intercostal nerve in the left forebreast, armpit and back. Subsequently, neurological examination found cervical resistance in more than three fingers (neck resistance of less than two transverse fingers is not evidence of meningeal irritation; the neck resistance of this patient was approximately three transverse fingers, so the patient was presumed to be positive for meningeal irritation, highly suggestive of meningitis) and Kernig sign was positive. There were no significant abnormalities according to brain MRI and lumbar puncture pressure was 330 mmH2O. In addition, the leukocyte count was 734x106/l, 50% monocyte count, 50% multinucleated cells, chloride levels of 109.1 mmol/l, protein levels of 235 mg/dl and glucose levels of 4.18 mmol/l in the cerebrospinal fluid. DNA and RNA metagenomic detection of pathogenic microorganisms in the cerebrospinal fluid revealed the presence of VZV. The patient was therefore treated with acyclovir, ceftriaxone, mannitol and methylprednisolone, but then developed right peripheral facial palsy at 10 days after treatment. This complication was not found in the literature, and the occurrence of facial neuritis was unexpected. The active period of VZV virus was 21 days, and the patient had herpes 5 days before admission. The active period of the virus was considered to have subsided and the patient was in the recovery period. Moreover, the results of lumbar puncture showed that the white blood cells, the proportion of neutrophils and the protein in cerebrospinal fluid were all decreasing, which also indicated that the patient had entered the recovery period. The patient was discharged 18 days after admission. In conclusion, observations from the present case suggested that the clinical manifestations of VZV infection can be complex and varied, requiring the clinician to have an accurate understanding of its disease progression and treatment.

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Acute Myeloid Leukemia (AML) is the most common leukemia observed in the adult population, accounting for 80% of all leukemia cases. Extramedullary involvement in AML, where leukemic cells are found in organs or tissues outside the blood or bone marrow, is a rare occurrence [1]. The most frequent sites of extramedullary disease include the skin, central nervous system (CNS), and lymph nodes [2, 3]. In this case report, we present an instance of extramedullary AML in the temporal bone, which initially presented with symptoms such as earache, discharge, and facial asymmetry, mimicking acute suppurative otitis media with facial palsy. The patient underwent mastoid exploration and facial nerve decompression. A post-operative bone marrow biopsy confirmed the diagnosis of AML, leading to the initiation of chemotherapy. The patient is currently under follow-up care.

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Peripheral facial palsy, characterized by sudden weakness or paralysis of the facial muscles, can arise from various etiologies, including viral infections. While Ramsay Hunt syndrome is well-established in clinical practice, Varicella Zoster Virus (VZV) infection leading to facial nerve palsy in pediatric patients remains relatively uncommon.This comprehensive case report documents the clinical presentation, diagnostic evaluation, treatment, and outcomes of a 10-year-old boy who developed left peripheral facial palsy following a primary Varicella infection. The report underscores the importance of timely recognition and tailored management approaches in achieving a complete remission of symptoms in pediatric patients.

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Antiphospholipid syndrome (APS) is an autoimmune disease that primarily affects young adults. It is characterized by the development of antiphospholipid antibodies (APL) and a wide range of macro- and microvascular symptoms. The primary causes of morbidity and mortality in APS are cardiovascular events. Subclinical atherosclerosis and cardiovascular events are associated with high-risk APL profiles, particularly with the presence of lupus anticoagulant and triple APL positivity (all three APL subtypes), co-existence with systemic lupus erythematosus (SLE), and traditional risk factors like smoking, hypertension, obesity, and hyperlipemia. We present a case series involving three female stroke patients with APS. This series highlights the importance of immunological profiles in all stroke patients.

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OBJECTIVES: The primary objective of this study was to describe the distribution of the Sunnybrook Facial Grading System scores in the general population. Secondary objectives included analyzing the effects of age, gender and facial side on these scores. DESIGN: Two speech therapists specializing in facial motor skill assessment evaluated the healthy participants using the Sunnybrook Facial Grading System, first with the right hemiface as a reference and then with the left hemiface as a reference. SETTING: The study was conducted in our ENT department from September 2022 to June 2023. PARTICIPANTS: One hundred eleven healthy participants were included (57 women and 54 men), aged 18 to 79 years. MAIN OUTCOME MEASURES: SFGS composite scores (SFGS-Total) and sub-scores at rest (SFGS-Rest) and in movement (SFGS-Movement) were studied according to three age categories (18-39 years) (40-59 years) and (60-79 years) and gender. Inter-rater reliability was collected between the two evaluators with Cronbach's alpha. RESULTS: Taking the right hemiface as a reference, SFGS-Total scores ranged from 65% to 100% (median = 96, IQR [91-100]). When the left hemiface was considered as the reference, scores ranged from 78% to 100% (median = 95; IQR [90-100]). Right and left SFGS-Total scores showed high inter-rater reliability (respectively α = 0.953 and α = 0.926). There was a slight negative correlation between age and SFGS-Total scores. CONCLUSIONS: By embracing a more realistic approach that acknowledges natural variations and asymmetry in facial movements, we can enhance patient care and promote a more holistic understanding of facial rehabilitation outcomes.

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BACKGROUND: Peripheral Facial Palsy (PFP) is a facial paralysis with various etiologies, including idiopathic causes (Bell's palsy), infections, trauma, and genetic factors. Traditional treatments involve antiviral medications, corticosteroids, and physiotherapy. However, new therapies, such as Low-Level Laser Therapy (LLLT), are emerging with promising results. METHODS: This case series reports on two patients with PFP treated with LLLT combined with Vitamin B1, B6, and B12 supplementation. The first case involved a 52-year-old female with PFP due to a viral infection. The second case was a 33-year-old male who developed PFP following a traumatic brain injury. Both patients received LLLT sessions every two weeks, targeting 10 points along the facial nerve pathway from the facial notch across the face. The laser device used was the Theraphy EC (DMC, Sao Carlos, SP, Brazil), with each point receiving 4 Joules of energy applied perpendicular to the skin after cleaning the face with water and soap to remove lipids that could interfere. The administration of Vitamin B was done using NEUROBIONTA tablets (Vitamin B1 + Vitamin B6 + Vitamin B12; Procter & Gamble, Santiago, Chile) with one tablet taken daily for 30 days. RESULTS: After six to seven sessions, both patients showed significant improvement in facial muscle function and overall facial symmetry. In the first case, improvements were noted in muscle tonicity and facial movements, with the patient reporting reduced facial disfigurement. In the second case, notable recovery in facial mobility and symmetry was observed, with the patient experiencing decreased paresthesia and restored muscle functionality. CONCLUSION: These findings suggest that LLLT, combined with Vitamin B1, B6, and B12 supplementation, may effectively improve facial muscle function and symmetry in PFP patients. The non-invasive nature and ease of application make LLLT a viable option for PFP treatment. Further studies with larger sample sizes and standardized protocols are necessary to confirm these results and establish LLLT as a standard treatment for PFP.

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Bell's palsy is an idiopathic and uncommon peripheral nerve palsy that affects the facial nerve, leading to an inability to control the muscles of facial expression on the affected side. This paper presents two cases of unilateral Bell's palsy in female patients treated with systemic steroids, antiviral drugs, and artificial tear substitutes. The treatment outcomes, clinical course, and recovery timelines are discussed in detail. A review of the current literature on the etiology, diagnosis, and management of Bell's palsy is also provided to contextualize these cases within broader clinical practice.

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INTRODUCTION: Lateral skull base (LSB) and middle ear pathologies often involve the facial nerve (FN), and their treatment may require FN sacrifice. Cases with unidentifiable proximal stump or intact FN with complete FN palsy, necessitate FN anastomosis with another motor nerve in order to restore innervation to the mimicking musculature. The results of hypoglossal-to-facial nerve anastomosis (HFA) and masseteric-facial nerve anastomosis in patients with facial paralysis after middle ear and LSB surgeries, are presented and compared. METHODS: Adult patients with total definitive facial paralysis after middle ear or LSB surgery undergoing facial nerve reanimation through hypoglossal or masseteric transfer anastomosis were enrolled. The facial nerve function was graded according to the House Brackmann grading system (HB). The facial function results at 3 months, 6 months, 12 months, 18 months and at the last follow up (more than 18 months) are compared. RESULTS: 153 cases of LSB and middle ear surgery presented postoperative facial palsy and underwent facial nerve reanimation surgery with HF in 85 patients (55.5%) and MF in 68 patients (44.5%). The duration of the FN palsy before reconstructive surgery was inversely associated to better FN results, in particular with having a grade III HB (p = 0.003). Both techniques had significantly lower HB scores when an interval between palsy onset and reanimation surgery was 6 months or less (MF p = 0.0401; HF p = 0.0022). Patients who underwent a MF presented significant improvement of the FN function at 3 months from surgery (p = 0.0078). At the last follow-up, 63.6% recovered to a grade III HB and 22.7% to a grade IV. On the other hand, the first significant results obtained in the HF group were at 6 months from surgery (p < 0.0001). 67.8% of patients had a grade III HB after a HF at the last follow-up, 28.8% a grade IV. FN grading at 6 months from surgery was significantly lower in the MF group compared to the HF (p = 0.0351). The two techniques had statistically similar results at later follow-up evaluations. DISCUSSION/CONCLUTION: MF was associated to initial superior results, presenting significant facial recovery at 3 months, and significantly better functional outcomes at 6 months from surgery compared to HF. Although later results were not significantly different in this study, earlier results have an important role in order to limit the duration of risk of corneal exposure.

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Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a group of vasculitis sharing a common pathophysiology, which affects small and medium blood vessels. There are three categories of AAV: granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA), and eosinophilic granulomatosis with polyangiitis (EGPA). As a systemic disease, AAV can affect basically every organ. The goal of this publication is to sum up and underline the problem of the aural manifestation of AAV; it details the definition of Otitis Media with Antineutrophil Cytoplasmic Antibody Associated Vasculitis (OMAAV) and allows for a better understanding of the specific tasks of medical professionals taking part in the diagnostic and therapeutic process. Among others, this publication is directed to otolaryngologists who may encounter patients with AAV and often are the first specialists who see patients with early symptoms of AAV. This publication presents brief characteristics of AAV, descriptions of aural manifestations and symptoms, differential diagnosis, and both pharmacological and surgical treatment options, based on current recommendations and information found in the literature and clinical databases.

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OBJECTIVE: The "Summary of Japanese clinical practice guidelines for Bell's palsy (idiopathic facial palsy) - 2023 update edited by the Japan Society of Facial Nerve Research" aims to review the latest evidence regarding the treatment of Bell's palsy and to provide appropriate recommendations. METHOD: Regarding the treatment of Bell's palsy, a guideline panel identified key clinical questions using an analytic PICO framework. The panel produced recommendations following the standards for trustworthy guidelines and the GRADE approach. The panel considered the balance of benefits, harm, and preferences when making recommendations. RESULTS: The panel identified nine key clinical questions: systemic (high/standard dose) corticosteroids, intratympanic corticosteroids, systemic antivirals, decompression surgery, acupuncture, physical therapy, botulinum toxin, and reanimation surgery. CONCLUSION: These guidelines strongly recommend systemic standard-dose corticosteroids for the clinical management of Bell's palsy. Other treatments are weakly recommended due to insufficient evidence. The absolute risk reduction of each treatment differed according to the disease severity. Therefore, physicians and patients should decide on treatment based on the disease severity.

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Lyme neuroborreliosis is a rare zoonosis which can be difficult to diagnose, in particular in low endemic areas. We here report the case of a 35-year-old man presenting with disabling back pain preceded by facial monoplegia, which was wrongly treated as Bell's palsy (paralysis a frigore) and then as post-traumatic lumbosciatica. The onset of facial diplegia allowed for a definitive diagnosis. The patient was treated with ceftriaxone and symptoms gradually improved.

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OBJECTIVE: Hypoglossal-facial nerve anastomosis (HFA) is the most commonly used surgical treatment for severe facial palsy that does not respond to conservative treatments. A major complication of HFA is the loss of tongue function. The authors aimed to evaluate whether anastomosing the transected hypoglossal nerve using the ramus descendens hypoglossi could prevent tongue deviation and dysfunction in patients undergoing HFA. METHODS: In this randomized trial, adult patients with severe peripheral facial palsy (House-Brackmann grade V or VI) who did not respond to at least 6 months of conservative treatment were randomized at a 1:1 ratio to undergo either HFA alone (control group) or HFA plus anastomosis between the hypoglossal nerve and descendens hypoglossi (intervention group). The primary endpoint was tongue deviation angle at 12 months. Key secondary endpoints included tongue disability (chewing difficulty, swallowing defect, and articulation defect), tongue disability index (TDI; range 1-4, with a higher score indicating more severe disability), and facial nerve function. RESULTS: Twenty patients were enrolled (10 in each group). At 12 months, the tongue deviation angle was significantly lower in the intervention group than in the control group (7.8° ± 5.1° vs 23.6° ± 9.6°, p < 0.001). Although not statistically significant, the intervention group had lower rates of chewing difficulty (1/10 vs 3/10, p = 0.58), swallowing defect (1/10 vs 5/10, p = 0.14), and articulation defect (2/10 vs 6/10, p = 0.17). TDI was significantly lower in the intervention group (1.5 ± 0.6 vs 2.5 ± 0.3, p < 0.001). The percentage of the patients achieving House-Brackmann grade II or III was 80% in each group. CONCLUSIONS: Anastomosis of the descendens hypoglossi to the transected hypoglossal nerve attenuated tongue deviation in patients undergoing HFA for facial palsy, without compromising facial nerve function. Clinical trial registration no: ChiCTR2000034372 (Chinese Clinical Trials Registry).

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Neurological complications after the coronavirus disease 2019 (COVID-19) vaccine administration have been reported. However, the incidence rates of these complications have not been compared in vaccinated and unvaccinated individuals. This study used a nationwide cohort from South Korea to investigate the incidence and prognostic factors of facial-related neurological disorders, such as facial palsy, trigeminal neuralgia, and hemifacial spasms, after COVID-19 vaccination. A population-based cohort design was used to examine data from a randomly selected 50% of the adult population in Seoul, South Korea. Information on demographics, vaccination status, vaccination type, and medical history was collected. The incidence rates and adjusted hazard ratios (aHRs) for facial-related neurological disorders were calculated. This study included 2,482,481 adults, 85.94% of whom were vaccinated. Vaccinated individuals showed a higher incidence of facial palsy, hemifacial spasm, and trigeminal neuralgia than unvaccinated individuals, with significant aHRs of 1.821, 3.203, and 6.621, respectively. Dyslipidemia, female sex, and young age were identified as risk factors for hemifacial spasms and trigeminal neuralgia. This study demonstrates an increased incidence of facial-related neurological disorders after COVID-19 vaccination, particularly among individuals with dyslipidemia and younger women. These findings underscore the need for further investigations into the mechanisms and management of vaccine-related neurological issues.

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Hereditary gelsolin amyloidosis is an adult onset autosomal dominant disease with neurologic, ophthalmologic and dermatologic features that may be mistaken for Sjögren syndrome. We describe a case of a 68 year old female presenting with facial numbness and asymmetry, dry eyes, dry mouth and fatigue, originally diagnosed as Sjögren syndrome and treated with hydroxychloroquine. Due to her insidious progression of facial weakness with associated proximal muscle weakness she underwent a muscle biopsy, which demonstrated features of hydroxychloroquine induced myopathy and amyloid deposition. This subsequently led to targeted genetic testing, revealing an autosomal dominant c.640G > A pathogenic variant of the gelsolin gene. Therefore, this is a unique case of complex muscle pathology with features of a rare hereditary systemic amyloidosis an uncommon drug- induced myopathy.

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INTRODUCTION: Primary squamous cell carcinoma of the parotid gland typically presents as a palpable, often painless mass. Peripheral facial palsy as the only sign of malignant neoplasia is rare. In these cases, the diagnosis is regularly confirmed by radiological imaging followed by surgical exploration and biopsy. However, if there is no detection of malignant lesions and no evidence of a tumor, the reluctance to take a biopsy of an unremarkable nerve can lead to misdiagnoses. CASE REPORT: A 40-year-old female patient without medical history presented to our clinic with a complete right-sided peripheral facial palsy that had slowly progressed for 2.5 years. All other otorhinolaryngological examination findings were within normal limits. Magnetic resonance imaging examination of the head and neck and 18-fluorodeoxyglucose positron emission tomography showed unremarkable results. We proceeded with surgical exploration, which revealed no evidence of a tumor and an externally completely unremarkable facial nerve. A biopsy from the main trunk area of the nerve revealed an infiltration by a squamous cell carcinoma. Total parotidectomy with resection and reconstruction of the facial nerve and neck dissection was performed. Considering the absence of a primary tumor and other tumor formations the diagnosis of a completely regressive primary squamous cell carcinoma of the parotid gland was confirmed. CONCLUSION: In conclusion, in the case of slow-onset peripheral facial palsy that persists without signs of recovery, a gadolinium-enhanced MRI should be performed. If imaging is unremarkable and there is no primary tumor detection along the course of the facial nerve, a surgical exploration with biopsy of the facial nerve is necessary.

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PURPOSE: Repetitive Peripheral Magnetic Stimulation [rPMS] is a non-invasive tool that has a potential therapeutic role in many musculoskeletal disorders. We aimed to demonstrate the therapeutic efficacy of high frequency [rPMS] in acute Idiopathic Facial Nerve Palsy [IFP]. And to study the role of neuromuscular ultrasonography in acute idiopathic facial palsy. METHODS: Forty patients, aged above 18 years, diagnosed with unilateral acute [within 7 days of onset] idiopathic facial palsy were enrolled and randomly divided into intervention group [20 patients] and control group. Both groups underwent clinical examination, assessment of facial nerve disability by House-Brackmann grading [HBG] score and Facial Disability Index [FDI] score, ultrasonography of facial nerve of both normal and affected sides at baseline and after 6 weeks, medical treatment and routine rehabilitation therapy. The intervention group were subjected to 10 sessions of high frequency r PMS [5/week for 2 successive weeks] on the affected side. RESULTS: Both [HBG] and [FDI] showed more significant improvement in the intervention group in comparison to the control group after 6 weeks follow up. Ultrasonographic measures of facial nerve in the affected side were significantly larger than non-affected side at baseline. However, those measures significantly decreased after 6 weeks follow up. Surprisingly, the intervention group showed more significant decrease in facial nerve dimeter at proximal portion [without sheath] in comparison to control group. CONCLUSION: high frequency r PMS have an adjuvant role in treatment of acute idiopathic facial palsy. Also, ultrasonography has beneficial role in evaluation and prognosis of [IFP].

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