Neurosarcoidosis: inicio con compromiso de múltiples sitios neurológicos / Neurosarcoidosis: Onset with involvement of multiple neurological sites

Resumen Presentamos el caso de una mujer joven sana, que consultó por parálisis facial periférica izquierda asociada a fiebre, tos seca, disnea y astenia de dos semanas de evolución. Al examen físico se evidenció hipoestesia en dermatomas D6 a D12 izquierdos y galactorrea bi lateral. En el laboratorio presentaba serologías virales negativas, eritrosedimentación, títulos de anticuerpos antinucleares, prolactina y hormona tiroestimulante elevados, con anticuerpos antiperoxidasa positivos. La tomografía computarizada mostró múltiples adenopatías cervicales, mediastinales e hiliares bilaterales, sin com promiso del parénquima pulmonar. El cultivo de líquido cefalorraquídeo fue negativo para gérmenes comunes, micobacterias (Xpert MTB/RIF), y la citología no mostró atipia. Se realizó una resonancia magnética con con traste endovenoso de cerebro sin hallazgos patológicos y de columna con alteración de la señal centromedular de D6 a D9 de casi la totalidad del espesor del cordón, con refuerzo con contraste endovenoso. Durante la in ternación recuperó la sensibilidad en tronco izquierdo y no repitió episodios febriles o tusígenos. Se realizó mediastinoscopía con biopsia ganglionar con anatomía patológica con presencia de numerosos granulomas no caseificantes compatibles con sarcoidosis. Se clasificó como neurosarcoidosis probable e inició tratamiento con corticoides con mejoría de los síntomas neurológi cos restantes, realizándose una resonancia magnética a los tres meses, donde la alteración de la señal se limitaba desde D7 a D8. Nuestro objetivo es destacar la presentación neurológica en múltiples sitios que obligó a descartar otras entidades más frecuentes, así como la evolución favorable incluso previo al inicio de un esquema de tratamiento de primera línea.

Abstract We present the case of a healthy young woman who consulted for left peripheral facial palsy associated with fever, dry cough, dyspnea, and asthenia of two weeks' evolution. Physical examination revealed hypoesthesia in left T6 to T12 dermatomes and bilateral galactorrhea. In the laboratory, she presented negative viral serology, elevated erythrocyte sedimentation rate, antinuclear an tibody titers, prolactin and thyroid-stimulating hormone, with positive antiperoxidase antibodies. Computed to mography showed multiple bilateral cervical, mediastinal, and hilar adenopathies, without involvement of lung parenchyma. Cerebrospinal fluid culture was negative for common germs, mycobacteria, and Xpert MTB/RIF, and cytology did not show atypia. Contrast-enhanced magnetic resonance was performed on the brain without pathological findings and on the spine with alteration of the centromedullary signal from T6 to T9 of almost the entire thickness of the cord, with posterior enhancement with gadolinium. During hospitalization, she recovered sensitivity in the left trunk and did not repeat febrile or cough episodes. She was referred to another center for mediastinoscopy with lymph node biopsy revealing the presence of numerous non-caseating granulomas compatible with sarcoidosis. It was classified as probable neurosarcoidosis and started treatment with corticoste roids with improvement of the remaining neurological symptoms. A magnetic resonance was performed three months later where the signal alteration was limited from T7 to T8. Our objective is to highlight the florid neu rological presentation that made it necessary to rule out other more frequent entities and the favorable evolution even before starting a first-line scheme of treatment.

Melkersson Rosenthal Syndrome: A Case Report

Introduction: Melkersson-Rosenthal Syndrome (MRS) is a rare neuro-mucocutaneous condition. It mainly includes three triads as orofacial swelling, facial palsy and fissured tongue. All of the classical triad may not be seen at the same time, as symptoms may appear in different interval of time and has a recurrence. MRS is diagnosed based on oligosymptomatic when two or more clinical features are present or monosymptomatic cases when there evidence of a non-necrotising, granulomatous cheilitis in patients with isolated facial or lip edema can be noted in biopsy. Case Presentation: In this case report a 18 year old male patient all the three classic clinical characteristic features as granulomatous cheilitis, unilateral facial muscle palsy and a fissured tongue are seen. The clinical features of this rare condition along with treatment procedure are presented. Conclusion: Oral corticosteroids are the mainstay in the treatment of MRS. Intralesional triamcinolone acetonide used in oro-facial edema. In recurrent cases of MRS need second-line immunosuppressants like methotrexate and thalidomide. In refractory recurrent facial nerve palsies Surgical decompression of the facial nerve may be considered.

Parálisis facial alternobárica: a propósito de un caso y revisión de la literatura / Alternobaric facial palsy: case report and literature review

La parálisis o paresia facial alternobárica es una neuropraxia del séptimo nervio cra-neal debido a cambios de presión. Se produce en el contexto de una disfunción de la trompa de Eustaquio, una dehiscencia canal del nervio facial y cambios en la presión atmosférica. Se considera una rara complicación de barotrauma. Su prevalencia es difícil de estimar y, probablemente, se encuentre subreportada. La forma de presentación más habitual incluye paresia facial, plenitud aural, hipoacusia, otalgia, parestesias faciales y linguales. La mayoría de los episodios son transitorios, con una duración entre minutos y algunas horas, con recuperación posterior completa. Entre los diagnósticos diferenciales se encuentran causas periféricas y centrales de paresia facial, las cuales hay que sospechar ante la persistencia de los síntomas en el tiempo o ante la presencia de otros signos o síntomas neurológicos. La evaluación inicial debe incluir un examen otoneurológico completo. La tomografía computarizada de hueso temporal favorece la visualización de posibles dehiscencias del canal del facial. La prevención de nuevos episodios incluye la práctica de ecualización efectiva, la resolución de la disfunción de la trompa de Eustaquio y en algunos casos específicos, métodos alternativos de ventilación del oído medio como la colocación de tubos de ventilación. Una vez instalada la parálisis facial, si no se produce recuperación espontánea, el uso de corticoides es una opción. Se presenta un caso de paresia facial alternobárica recurrente y una revisión de literatura.

Alternobaric facial palsy or paralysis is a neuropraxia of the seventh cranial nerve due to pressure changes. It occurs in the context of Eustachian tube dysfunction, facial nerve canal dehiscence, and changes in atmospheric pressure. It is considered a rare complication of barotrauma. Its prevalence is difficult to estimated, and this condition is probably underreported. The most common form of presentation includes facial weakness, ear fullness or pressure, hearing loss, otalgia, facial and lingual paresthesias. Most episodes are transient, lasting from minutes to a few hours, with a subsequent complete recovery. Among the possible differential diagnoses are peripheral and central causes of facial paralysis, which must be suspected due to the persistence of symptoms over time or the presence of other neurological signs or symptoms. The initial evaluation should include a complete otoneurological examination. Computed tomography of the temporal bone is useful for the visualization of facial canal dehiscence. Prevention of further episodes includes practicing effective equalization, Eustachian tube dysfunction treatment, and in certain specific cases, alternative middle ear ventilation methods such as tympanostomy tubes. Once facial paralysis is established, if spontaneous recovery does not occur, the use of corticosteroids is considered an option. A case of recurrent alternobaric facial paresis and a review of the literature are presented.

Parálisis facial periférica bilateral postraumática / Bilateral post-traumatic facial palsy

La parálisis del VII par craneal o nervio facial, es una de las neuropatías más frecuentes. Sin embargo, la bilateral ocurre solo en el 0,3 a 2% de los casos. Se describe el caso de un paciente con parálisis facial periférica bilateral progresiva, secundaria a traumatismo craneoencefálico con fractura de ambos temporales, a quien se le realizó tratamiento médico con esteroides y fisioterapia con mejoría, por lo que se decidió expectar la conducta quirúrgica del nervio facial

Facial nerve palsy is one of the most common neuropathies. However, bilateral occurs only in 0.3 to 2% of cases. The case of a patient with progressive bilateral facial nerve palsy, secondary to cranioencephalic trauma with fracture of both temporal was treated with steroids and physiotherapy with subsequent resolution of symptoms, so it was decided dedicated wait for surgery

Alteraciones oftalmológicas en pacientes con COVID-19 / Ophthalmologic Alterations in Patients with COVID-19

Introducción: Las alteraciones oftalmológicas asociadas al SARS-CoV-2 se pueden clasificar como efectos directos del virus, por reacción inmunológica o por la vacunación. Objetivo: Describir las alteraciones oftalmológicas en pacientes con COVID-19. Métodos: Se presenta una serie de casos con diagnóstico clínico y serológico de COVID-19 en el curso de la enfermedad, posterior a esta o por la vacunación. Fueron estudiados 7 casos (4 mujeres y 3 hombres), que acudieron de forma consecutiva a la consulta de Neuroftalmología del Hospital "Hermanos Ameijeiras" (HHA), remitidos por especialistas que evalúan el protocolo de casos "Pos-COVID-19" en esta institución con las siguientes alteraciones: neurorretinitis (NR), papilitis (P), uveítis y papilitis (U-P), membrana epirretiniana (MER) y parálisis facial periférica (PFP), en el periodo de agosto a noviembre de 2021. Resultados: La edad promedio fue de 44 años. La NR, P y MER unilateral predominaron en la serie estudiada. La etiología inmunológica fue la más frecuente. Los síntomas y signos referidos por los pacientes fueron: disminución visual y déficit en la visión de los colores. Los resultados terapéuticos no fueron satisfactorios en los casos 1 y 6, con un tiempo de evolución prolongado, desde el inicio de los síntomas hasta el diagnóstico y tratamiento con esteroides y vitaminas del complejo B. Conclusiones: Existe una asociación entre las enfermedades oftalmológicas encontradas en pacientes jóvenes con antecedentes de padecer la COVID-19 o relacionado con la vacunación. La efectividad terapéutica estuvo condicionada por el tiempo de evolución de la enfermedad(AU)

Introduction: Ophthalmologic alterations associated with SARS-CoV-2 can be classified as direct effects of the virus, by immunologic reaction or by vaccination. Objective: To describe the ophthalmologic alterations in patients with COVID-19. Methods: A series of cases with clinical and serologic diagnosis of COVID-19 during the course of the disease, after the disease or after vaccination is presented. Seven cases were studied (4 women and 3 men), who consecutively attended the Neurophthalmology Consultation of the "Hermanos Ameijeiras" Hospital (HHA), referred by specialists who evaluate the "Post-COVID-19" case protocol in this institution with the following alterations: neuroretinitis (NR), papillitis (P), uveitis and papillitis (U-P), epiretinal membrane (MER) and peripheral facial palsy (PFP), in the period from August to November 2021. Results: The average age was 44 years. NR, P and unilateral MER predominated in the series studied. Immunologic etiology was the most frequent. The symptoms and signs referred by the patients were visual impairment and color vision deficit. Therapeutic results were not satisfactory in cases 1 and 6, with a prolonged evolution time, from the onset of symptoms to diagnosis and treatment with steroids and B-complex vitamins. Conclusions: There is an association between the ophthalmologic diseases found in young patients with a history of suffering from COVID-19 or related to vaccination. Therapeutic effectiveness was conditioned by the time of evolution of the disease(AU)

Parálisis facial aislada posterior a infección por virus de chikunguña: un nuevo diagnóstico diferencial / Isolated facial palsy after Chikungunya infection: A novel differential diagnosis

En las últimas décadas, se ha incrementado el reporte de manifestaciones neurológicas asociadas con la infección por el virus de chikunguña. Se informa el caso de un adulto joven previamente sano que presentó parálisis facial izquierda aislada después de una infección reciente por el virus de chikunguña en el trópico colombiano. Se describen aspectos importantes de la fisiopatología del virus y su tropismo por el sistema nervioso central y periférico, y se sugiere considerar este virus en el diagnóstico diferencial de la parálisis facial en pacientes con infección confirmada por el virus de chikunguña en regiones tropicales endémicas o en aquellos con antecedente de viajes recientes a dichas regiones.

A significant raise in the reports of neurological manifestations due to Chikungunya virus has been described worldwide. Here, we describe a case report of a previously healthy young adult who developed isolated left facial palsy after a confirmed Chikungunya virus infection in the Colombian tropics. We suggest considering this virus as a differential diagnosis for facial palsy in patients with confirmed Chikungunya virus infection who live in endemic regions or report a history of recent travel to these regions.

Lagophthalmos: An etiological lookout to frame the decision for management

Purpose: To describe the etiology, clinical profile, duration of lagophthalmos cases and thereby, framing a decision for the management based on the severity of Exposure keratitis (EK), Facial palsy (FP) with each etiology and to describe the outcome of the management options. Methods: The method was a prospective review of 120 lagophthalmos cases treated at a single tertiary center from January 2018 to January 2019. The main outcome measures were analysing the association between age, etiology, duration and management of lagophthalmos. Results: Of the 120 patients studied, paralytic etiology was noted in 86 and eyelid etiology in 34 patients. The percentage of various lagophthalmos etiology documented were Bell’s palsy (35.83%), lagophthalmos in ICU patients (15%), traumatic facial palsy(FP) (10.80%), stroke associated FP (6.67%), infection associated FP (6.67%), iatrogenic FP, cicatricial lagophthalmos (5%), lagophthalmos post eyelid surgeries (5%), neoplastic FP(3.33%), congenital FP (1.67%), proptosis induced lagophthalmos (1.67%), floppy eyelid syndrome induced lagophthalmos (0.83%) and lid coloboma associated lagophthalmos (0.83%). A statistically significant correlation was noted between exposure keratitis and age, with an increased prevalence age advances. The management showed significant variation with individual etiology, with some etiologies unquestionably requiring surgical management. Surgical management is crucial as the duration of lagophthalmos increases more than 6 weeks, EK involving pupillary axis and poor FP recovery. Conclusion: This study concludes that the conservative management was sufficient in all cases when the duration is less than 1 week, Exposure keratitis not involving the pupillary axis (EK< Grade II) and FP with good functional recovery ( FP < Grade III). The predominant causes being Bell’s palsy, lagophthalmos in ICU patients and vascular FP. Whereas, cases with poor functional recovery of facial palsy(FP) and permanent eyelid deformation require definitive surgical management like Traumatic FP & cicatricial lagophthalmos

Complete and incomplete lower motor neuron facial palsy in post-COVID-19 mucormycosis

Purpose: To study facial nerve palsy (FNP) in post?COVID?19?mucormycosis patients and its ocular complications, report different presentations of FNP in such patients, and propose its etiopathogenesis based on presentation and clinico?radiologic localization. Methods: A prospective cohort study was carried out in patients of post?COVID?19?mucormycosis who presented at our tertiary center, over a period of 3 months. Motor and sensory examination of the facial nerve was done to diagnose FNP and localize the lesion clinically. Slit?lamp examination was done for grading corneal involvement. MRI brain, orbit, and paranasal sinuses (PNS) with contrast were studied to find involvement along the facial nerve. It was assessed whether this site of lesion corresponded with clinical localization. Data were analyzed using the percentage of total cases and Fisher抯 test. Results: A total of 300 patients with post?COVID?19 mucormycosis were examined, of which 30 (10%) patients were found to have FNP. All were lower motor neuron (LMN) type and were associated with corneal complications. The most common site clinically was distal to the chorda tympani (66.66%) and radiologically was infratemporal (IT) fossa (63.4%). The clinical localization significantly correlated with the radiological findings (P = 0.012). Twenty percent of patients showed incomplete involvement of facial muscles. Conclusion: FNP was found to be of LMN type. The most common site of insult was IT fossa. There was a good clinico?radiological correspondence of lesions. Isolated lesions were also found along the peripheral nerve course, presenting as incomplete facial palsy. Recognition of FNP in post?COVID?19 mucormycosis, in all its variable forms, is important to manage corneal complications

Effects of high-frequency repetitive transcranial magnetic stimulation on central facial paralysis after ischemic stroke / 中国康复理论与实践

@#Objective To explore the effect of high-frequency repetitive transcranial magnetic stimulation (rTMS) on central facial paralysis after ischemic stroke. Methods From June, 2020 to June, 2021, 54 patients with central facial palsy after ischemic stroke who were hospitalized in the Rehabilitation Department of Xuzhou Central Hospital were randomly divided into control group (n = 27) and experimental group (n = 27). Both groups were given conventional rehabilitation treatment, including medication and facial muscle rehabilitation training. The experimental group was treated with 5 Hz rTMS on the affected primary motor cortex, and the control group was treated with the same parameters of sham stimulation at the same site. Before treatment and four weeks after treatment, the House-Brackmann Grading System 2.0 (HBGS-2), the Sunnybrook Facial Grading System, the horizontal distance difference between the bilateral mouth corners to the lower center of the philtrum at rest, the horizontal distance difference between the bilateral mouth corners to the intersection of the mandibular central incisor when showing the teeth at the best effort and the angle of the tongue midline deviating from the facial midline when the tongue was stretched out were used to evaluate the facial nerve function of the patient. Results One case dropped down in each group. Before treatment, there was no significant difference in the scores of HBGS-2 and Sunnybrook Facial Grading System, the horizontal distance difference between the bilateral mouth corners to the lower center of the philtrum at rest, the horizontal distance difference between the bilateral mouth corners to the intersection of the mandibular central incisor when showing the teeth at the best effort, and the angle of the tongue midline deviating from the facial midline when the tongue was stretched out between two groups (P > 0.05). After treatment, all the indexes significantly improved in both groups (|t| > 8.987, P < 0.001), and were better in the experimental group than in the control group (t > 2.939, P < 0.01). Conclusion 5 Hz rTMS on the affected primary motor cortex is effective on the facial nerve function of patients with central facial palsy after ischemic stroke.

Manejo terapéutico kinésico en pacientes pediátricos con parálisis facial sometidos a cirugía reconstructiva / Kinesic therapeutic management in pediatric patients with facial palsy undergoing reconstructive surgery

La Parálisis Facial (PF) es una condición infrecuente en pacientes pediátricos, representa un problema clínico relevante y conlleva diversas implicaciones. Tanto el curso natural como el tratamiento y pronóstico no se encuentran bien documentados en la literatura, más aún en sujetos sometidos a cirugía. Se presentan 2 casos de PF sometidos a cirugía reconstructiva, niño de 9 años y niña de 8, ambos casos revisados de forma retrospectiva. Se planteó un bordaje y evaluación kinésica estructurado como tratamiento para estos pacientes. El sistema de graduación facial Sunnybrook (SGFS) fue usado para evaluar resultados funcionales. Durante el seguimiento los sujetos mostraron mejoras continuas con una ganancia promedio de 30 puntos en el SGFS. En nuestra experiencia, la rehabilitación kinésica estructurada con el enfoque presentado, parece ser un coadyuvante efectivo en potenciar el proceso de recuperación de la función muscular y simetría facial en sujetos con PF sometidos a cirugía reconstructiva.

Facial Palsy (FP) is an uncommon condition in pediatric patients, it represents a serious linical problem and carries various implications. Both the natural course, as well as the treatment and prognosis are not well documented in the literature especially in subjects undergoing surgery. Two cases of FP undergoing reconstructive surgery are presented, a 9-year-old boy and an 8-year-old girl, both cases reviewed retrospectively. A structured kinesic approach and valuation was proposed as a treatment for these patients. The Sunnybrook Facial Grading System (SGFS) was applied to evaluate functional outcomes. During follow-up the subjects showed continuous improvement with an average increment of 30 points in the SGFS. In our experience, structured kinesic rehabilitation with the approach presented, seems to be an effective adjunct in enhancing the process of recovery of muscle function and facial symmetry in subjects with FP undergoing reconstructive surgery.

Effect of row-like puncture at sternocleidomastoid on peripheral facial palsy at recovery stage / 中国针灸

OBJECTIVE@#To observe the effect of conventional acupuncture combined with row-like puncture at sternocleidomastoid on peripheral facial palsy at recovery stage.@*METHODS@#A total of 60 patients with peripheral facial palsy at recovery stage were randomized into an observation group and a control group, 30 cases in each one. Acupuncture was applied at affected Cuanzhu (BL 2), Yangbai (GB 14), Sibai (ST 2), Quanliao (SI 18), Jiache (ST 6), Dicang (ST 4), Hegu (LI 4), Taichong (LR 3) and Zusanli (ST 36) in the control group. On the basis of the treatment in the control group, row-like puncture was applied at sternocleidomastoid (1 needle was punctured at muscle origin and insertion respectively, 3 to 4 needles were row-like punctured at the connection line of muscle origin and insertion). The treatment was given once a day, 5 times were as one course, with 2-day interval, totally 4 courses were required in the both groups. The house-brackmann (H-B) facial nerve function grade, facial nerve function rating system-dynamic view rating scale score and facial disability index (FDI) scale score [including scores of FDI physical function (FDIp) and FDI social life function (FDIs)] before and after treatment were observed, and the clinical efficacy was evaluated in the two groups.@*RESULTS@#After treatment, the H-B facial nerve function grades were improved compared before treatment in the both groups (@*CONCLUSION@#Compared with conventional acupuncture, combination therapy with row-like puncture at sternocleidomastoid can improve the therapeutic effect of peripheral facial palsy at recovery stage.

Uso de láser de baja potencia como coadyuvante en tratamiento con terapias combinadas en paciente con parálisis facial periférica / Use of low level laser therapy as an adjunct in treatment with combined therapies in patients with peripheral facial palsy

La parálisis facial periférica es un trastorno neurológico que tiene consecuencias motoras y sensoriales y que afecta al nervio facial. Ocasiona alteraciones en la acción de los músculos del rostro, en la secreción de saliva, lágrimas y en el sentido del gusto.El objetivo de esta publicación es dar cuenta de un caso en el que se realizó un tratamiento con terapias combinadas mínimamente invasivas junto con el uso de láserterapia de baja potencia, en un paciente femenino, 52 años de edad, con antecedentes médicos relevantes, derivada para evaluación estética. La paciente presenta una parálisis facial moderada sin resolver. Fue sometida a láserterapia con longitud de onda (808 nm) y una energía de 3 Joules por sesión en el lado afectado, complementada con toxina botulinica Tipo A, en el lado sano.El tratamiento de parálisis facial periférica con terapias combinadas mínimamente invasivas ha mostrado ser una herramienta útil terapéutica de las secuelas faciales. A su vez, la terapia de fotobiomodulación con láser de baja potencia es prometedora como coadyuvante en el proceso de reparación nerviosa lo que permitiría la recuperación funcional del nervio facial a mediano y largo plazo.

Peripheral Facial Palsy is a neurological disorder that has motor and sensory consequences and affects the facial nerve. It causes alterations in the action of the muscles of the face, in the secretion of saliva, tears, and in the sense of taste.The objective of this publication is to report a case in which a treatment with minimally invasive combined therapies was performed together with the use of low-level laser therapy, in a 52-year-old female patient. With relevant medical history, referred for aesthetic evaluation and with unresolved moderate facial paralysis. She was subjected to laser therapy with wavelength (808 nm) and an energy of 3 Joules per session on the affected side, supplemented with Botulinum Toxin Type A, on the healthy side.The treatment of peripheral facial paralysis with minimally invasive combined therapies has proven to be a useful therapeutic tool for facial sequelae. In turn, low-level laser photobiomodulation therapy is promising as an adjunct in the nerve repair process, which would allow functional recovery of the facial nerve in the medium and long term.

Facial Clinimetric Evaluation Scale and Synkinesis Assessment Questionnaire Translation into Brazilian Portuguese: A Validation Study

Abstract Introduction Facial nerve palsy results in both functional disability and psychological morbidity. There are several well-established grading scales to quantify the quality of life of these patients. Objective Translate and validate the Facial Clinimetric Evaluation (FaCE) scale and Synkinesis Assessment Questionnaire (SAQ) to Brazilian Portuguese. Methods This study adopted a forward-backward translation method and performed cross-cultural adaptation. A pilot study was conducted to correct any confusing language and to evaluate content validity. A validation study was then performed. Internal consistency of the Brazilian Portuguese version of the FaCE and SAQ items was evaluated by Cronbach's alpha coefficient. Construct validity was assessed by Spear- man's Rank Correlation Coefficient between FaCE and SAQ scores to eFACE, House- Brackmann, Short Form 12 (SF-12) and Facial Disability Index (FDI) (sub)scores. Results A total of 90 patients were included. Cronbach's alpha for total domain scored 0.881 for FaCE and 0.809 for SAQ. FaCE total score correlation to eFACE total and House- Brackmann showed Spearman's r value of 0.537 and -0.538, respectively (p < 0.001). SAQ correlation to eFACE synkinesis subdomain was -0.449 (p < 0.001). No correlation was found between SAQ and HB score. FaCE total score correlations were of 0.301 and 0.547 for SF-12 PCS and MCS, respectively (p < 0.001). Correlation between FaCE total and FDI Physical and Social/well-being functions were 0.498 and 0.567 (p < 0.001). Conclusion Brazilian Portuguese FaCE scale and SAQ versions achieved high validity and reliability in the present study. These translated instruments demonstrated good psychometric properties, being proper to use in clinical practice in Brazil and with Brazilian Portuguese speakers.

Espectro fenotípico de Síndrome de CHARGE neonatal / Phenotypic spectrum of neonatal CHARGE syndrome

INTRODUCCIÓN: El Síndrome de CHARGE (SCH), es un síndrome genético de amplia variabilidad fenotípica, de he rencia autosómica dominante, causado por variantes patogénicas en el gen CHD7. OBJETIVO: Descri bir el amplio espectro fenotípico de un SCH neonatal, heterocigoto para el gen CDH7 y la utilidad de la secuenciación en la confirmación diagnóstica, considerando los diagnósticos diferenciales. CASO CLÍNICO: recién nacida prematura de 34 semanas, con antecedentes prenatales de polihidroamnios severo, translucencia nucal aumentada y foco hiperecogénico cardiaco, con estudio de TORCH antenatal, que descartó infección congénita. Al nacer se pesquisó parálisis facial periférica, atresia de coanas, dismorfias múltiples, cardiopatía congénita y coloboma retinocoroideo bilateral. Las neuroimágenes mostraron hipoplasia de cóclea y de canales semicirculares bilaterales e hipoplasia pontocerebelosa. Los potenciales evocados auditivos mostraron hipoacusia sensorioneural profunda derecha y anacusia izquierda. Evolucionó con hipocalcemia y alteraciones en la inmunidad, confirmándose un hipoparatiroidismo e hipoplasia de timo. El cariograma fue normal y la amplificación de sondas dependiente de ligandos múltiples (MLPA) excluyó microdeleción 22q11.2. La sospecha clínica de SCH se confirmó con la detección de una variante patogénica en el gen CHD7. CONCLUSIONES: La su perposición de características clínicas del SCH con otros síndromes genéticos requiere confirmación genética molecular considerando diferencias en evolución, terapias y riesgos de recurrencia.

INTRODUCTION: CHARGE syndrome is a genetic disorder of wide phenotypic variability, of autosomal dominant in heritance, caused by pathogenic variants in the CHD7 gene. OBJECTIVE: To describe the broad pheno typic spectrum of neonatal CHARGE syndrome, heterozygous for the CHD7 gene, and the usefulness of genome sequencing in diagnostic confirmation, considering differential diagnoses. CLINICAL CASE: 34-week preterm newborn, with severe prenatal history of polyhydramnios, increased nuchal trans- lucency, and hyperechogenic cardiac focus, with a TORCH study that ruled out congenital infection. Peripheral facial paralysis, choanal atresia, multiple dysmorphisms, congenital heart disease, and bilateral retinochoroidal coloboma were observed at birth. The neuroimaging study showed hypo plasia of the cochlea and bilateral semicircular canals, and pontocerebellar hypoplasia. The auditory evoked potentials showed deep right-sided sensorineural hearing loss and left anacusis. The patient developed hypocalcemia and immunological alterations, confirming hypoparathyroidism and thy mus hypoplasia. The karyogram was normal and 22q11.2 microdeletion was excluded through mul tiplex ligation-dependent probe amplification (MPLA). A pathogenic variant in the CHD7 gene was detected that confirmed the clinical suspicion of CHARGE syndrome. CONCLUSIONS: The overlap of clinical characteristics of CHARGE syndrome requires molecular genetic confirmation, considering differences in evolution, therapies, and recurrence risks with other genetic syndromes.

Facial Nerve Schwannoma – A Diagnostic and Surgical dilemma: A Case Report

Facial nerve schwannomas are rare facial nerve tumors that can arise anywhere along the course of the nerve where Schwanncells are present. The clinical presentation and symptoms differ not only due to the location of tumor but also due to theneighboring anatomical structures it involves. Delay in diagnosis can increase the morbidity of the condition for the patient.Surgical excision is the definitive treatment and often it can be challenging to the surgeon. Our case demonstrates an unusualpresentation of this relatively uncommon tumor that mimicked cholesteatoma causing lower motor neuron facial palsy whichturned out to be a facial schwannoma later by biopsy

Congenital facial palsy / 中华耳鼻咽喉头颈外科杂志

Congenital facial palsy is unilateral or bilateral facial nerve palsy at birth due to genetic or different pathogenic factors. It can be divided into syndromic type and non-syndromic type according to its accompanying symptom. The pathogeny and symptom of each type are different, in part with genetic heterogeneity. Congenital facial palsy cannot recover spontaneously. Different types of congenital facial palsy have different treatment schemes. The treatment is significant to the improvement of life quality and physical and mental development of children with congenital facial palsy.

Effect of Kinesio Taping Guided Therapy on Facial Paralysis and Salivation after Stroke / 中国康复理论与实践

Objective:To observe the clinical efficacy of Kinesio Taping guided therapy on facial paralysis and salivation after stroke. Methods:From January to July, 2018, 30 patients with central facial palsy were randomly divided into control group (n = 15) and observation group (n = 15). The control group accepted ice stimulation, facial massage, facial muscle function training and low-frequency electrical stimulation, while the observation group accepted Kinesio Taping of "Y" or "O" shape alternately during massage and facial muscle function training, and kept taping for a day if possible. They were assessed with Teacher Drooling Scale (TDS), House-Brackmann (H-B) Scale and Facial Nerve Function Scale before and four weeks after treatment. Results:Both groups improved in the scores of TDS, H-B Scale and Facial Nerve Function Scale after treatment (Z > 2.460, t > 4.971, P < 0.05), and improved more in the observation group than in the control group (Z > 2.817, t > 4.964, P < 0.01). Conclusion:Kinesio Taping guided therapy is effective on central facial paralysis and salivation after stroke.

Effect of Kinesio Taping Guided Therapy on Facial Paralysis and Salivation after Stroke / 中国康复理论与实践

Objective:To observe the clinical efficacy of Kinesio Taping guided therapy on facial paralysis and salivation after stroke. Methods:From January to July, 2018, 30 patients with central facial palsy were randomly divided into control group (n = 15) and observation group (n = 15). The control group accepted ice stimulation, facial massage, facial muscle function training and low-frequency electrical stimulation, while the observation group accepted Kinesio Taping of "Y" or "O" shape alternately during massage and facial muscle function training, and kept taping for a day if possible. They were assessed with Teacher Drooling Scale (TDS), House-Brackmann (H-B) Scale and Facial Nerve Function Scale before and four weeks after treatment. Results:Both groups improved in the scores of TDS, H-B Scale and Facial Nerve Function Scale after treatment (Z > 2.460, t > 4.971, P < 0.05), and improved more in the observation group than in the control group (Z > 2.817, t > 4.964, P < 0.01). Conclusion:Kinesio Taping guided therapy is effective on central facial paralysis and salivation after stroke.

Utilidad de la tomografia por emisión de positrones - tomografia computada para el diagnóstico de neurosarcoidosis. A propósito de un caso / Positron emission tomography/CT scanning in the diagnosis of neurosarcoidosis

Resumen El diagnóstico de la neurosarcoidosis es difícil por su polimorfismo clínico y radiológico, y cualquier parte del sistema nervioso central puede estar afectado. Presentamos el caso de una paciente joven con cefalea, meningitis linfocitaria subaguda, en quien a pesar de estudios bioquímicos e imagenológicos no se identificó la etiología. La tomografia por emisión de positrones con 18 fluorodeoxiglucosa permitió la identificación de un ganglio mediastinal hipermetabólico, con informe de patología de granulomas no caseificantes, hallazgos sugestivos de sarcoidosis, reflejando la utilidad de la tomografía por emisión de positrones con 18 fluorodeoxiglucosa para el diagnóstico y estadificación de la enfermedad, especialmente en las situaciones en las que no hay evidencia mediante otros estudios imagenológicos de enfermedad extraneural.

Abstract The diagnosis of neurosarcoidosis is difficult because of its clinical and radiological polymorphism. Any part of the central nervous system may be affected, and imaging studies are usually inconclusive. The case is presented of a young patient with headache, bilateral facial paralysis, and subacute lymphocytic meningitis in whom, despite biochemical and imaging studies the origin was not identified. Using 18-PET-FDG helped to identify a hypermetabolic mediastinal adenopathy, with pathology reporting non-caseating granulomas, findings suggestive of sarcoidosis. This reflects its usefulness for the diagnosis and staging of the disease, especially in situations where there is no evidence from other imaging studies of extra-neural disease.

Severe Hemifacial Spasm is a Predictor of Severe Indentation and Facial Palsy after Microdecompression Surgery

BACKGROUND AND PURPOSE: Hemifacial spasm (HFS) is mostly caused by the compression of the facial nerve by cerebral vessels, but the significance of spasm severity remains unclear. We investigated the clinical significance of spasm severity in patients with HFS who underwent microvascular decompression (MVD). METHODS: We enrolled 636 patients with HFS who underwent MVD between May 2010 and December 2013 at Samsung Medical Center (SMC), Seoul, Korea. Subjects were divided into two groups based on spasm severity: severe (SMC grade 3 or 4) and mild (SMC grade 1 or 2). We compared demographic, clinical, and surgical data between these two groups. RESULTS: The severe-spasm group was older and had a longer disease duration at the time of MVD compared to the mild-spasm group. Additionally, hypertension and diabetes mellitus were more common in the severe-spasm group than in the mild-spasm group. Regarding surgical findings, there were more patients with multiple offending vessels and more-severe indentations in the severe-spasm group than in the mild-spasm group. Even though the surgical outcomes did not differ, the incidence of delayed facial palsy after MVD was higher in the severe-spasm group than in the mild-spasm group. Logistic regression analysis showed that severe-spasm was correlated with longer disease duration, hypertension, severe indentation, multiple offending vessels, and delayed facial palsy after MVD. CONCLUSIONS: Spasm severity does not predict surgical outcomes, but it can be used as a marker of pathologic compression in MVD for HFS, and be considered as a predictor of delayed facial palsy after MVD.