Fallopian Canal Meningocele Causing Cerebrospinal Fluid Rhinorrhoea.

Fallopian canal meningocele is an extremely rare cause of cerebrospinal fluid rhinorrhoea. Also, due to complex anatomical relations and a lack of experience, its management remains a challenge. Here we report a case focusing on its clinical course, radiological features, and management.

Labyrinthine Bifurcation of the Facial Nerve.

The labyrinthine bifurcation of the facial nerve is extremely rare. Diverse congenital temporal bone anomalies usually coexist, and a detailed preoperative evaluation is needed to detect them. We report a case of labyrinthine bifurcation of the facial nerve detected on the preoperative evaluation of a patient with congenital aural atresia.

Objective tinnitus secondary to palatal tremor: Two case reports and brief literature review.

Objective tinnitus is defined as a type of tinnitus perceived by both the patient and external observer. This paper presents two cases of objective tinnitus related to palatal tremor, along with a literature review. Palatal tremor is a condition characterized by soft palate involuntary contractions. Two types of palatal tremor have been described: symptomatic palatal tremor and essential palatal tremor, with different clinical manifestations. Diagnostic workup is based on medical history and physical examination, including direct oropharynx exploration and cavum visualization through nasopharyngoscopy. Brain MRI is mandatory in all cases. If a secondary origin is suspected, additional lab tests should be performed based on clinical suspicion. First-line treatment is botulinum toxin injection into the levator veli palatini and tensor veli palatini muscles, with velopharyngeal insufficiency being its main adverse effect. Other medications have not been shown to be effective.

Langerhans cell histiocytosis of the head and neck in the pediatric population in a tertiary center: Clinical presentation, classification and treatment.

INTRODUCTION: Langerhans cell histiocytosis (LCH) is a rare disease of unknown etiology with a heterogeneous and unspecific clinical presentation. Any organ or system may be involved but the most frequent is the skeleton. The diagnostic gold standard is done through histopathology combined with immunohistochemistry in the correct clinical setting. Treatment is still controversial. The objective of this study is to present a series of pediatric patients in order to contribute to the diagnosis and treatment of LCH. MATERIAL AND METHODS: A longitudinal, descriptive and retrospective study was done in 20 pediatric patients histologically diagnosed of LCH int the last 10 years, in a tertiary center. A review of the medical history was done and data collection included: epidemiological data, clinical manifestations and classification, lesion characteristics, treatment employed, follow-up and evolution. RESULTS: The mean age presentation was 6.5 years (2-12). The most frequent disease presentation was a palpable skull tumor followed by headache. Other otorhinolaryngologic presenting symptoms were bloody otorrhea and post auricular swelling. Single-systems LCH with skull tumors was the most frequent classification. Treatment options (surgery, chemotherapy and corticosteroid infiltration) were indicated according to disease classification. CONCLUSION: LCH should be suspected in pediatric patients with a palpable cranial vault tumor, as well as in patients with chronic otorrhea with granulation tissue at the external ear canal. Management of LCH fundamentally includes chemotherapy and surgery, or the combination of both. High-risk organs lesions, including temporal bone lesions, and multi-system LCH are predictors of recurrence and should have a long-term follow-up.

Intralabyrinthine neurinoma: Management, exeresis and auditory restoration with cochlear implant.

BACKGROUND AND OBJECTIVE: Vestibular schwannoma is a benign tumour that originates in the eighth cranial nerve. It is termed intralabyrinthine schwannoma (ILS) when it develops in the inner ear, this being a rare origin. We present our experience in the management of three patients with ILS. MATERIALS AND METHODS: The results of tumour excision and cochlear implantation were evaluated in three patients with ILS: two intracochlear schwannomas (ICS) and one intravestibular schwannoma (IVS). RESULTS: Prior to surgery, all patients presented progressive sensorineural hearing loss and tinnitus. Complete tumour resection and cochlear implantation was possible in all patients, with favourable hearing rehabilitation. CONCLUSIONS: The therapeutic approach will depend on tumour size, growth rate, degree of hearing loss and presence of vestibular symptoms. Cochlear implantation (CI) in patients with ILS is possible when the cochlear nerve is present and functional. CI in patients, whether or not preceded by tumour excision, is an option with good hearing results in selected patients.

Neurinoma intralaberíntico: manejo, exéresis y restauración auditiva con implante coclear / Intralabyrinthine neurinoma: Management, exeresis and auditory restoration with cochlear implant

Introducción y objetivo: El schwannoma vestibular es un tumor benigno que se origina en el octavo par craneal. Se denomina schwannoma intralaberíntico (SIL) cuando se origina en el oído interno, siendo este origen poco frecuente. Presentamos nuestra experiencia en el manejo de 3 pacientes con SIL.Material y métodosLos resultados de la exéresis tumoral e implantación coclear fueron evaluados en 3 pacientes con SIL: 2 casos de schwannoma intracoclear y un caso de schwannoma intravestibular.ResultadosPrevio a la cirugía, todos los pacientes presentaban hipoacusia neurosensorial progresiva y acúfeno ipsilateral. La resección tumoral completa y la colocación de un implante coclear fue posible en todos los casos, con una rehabilitación auditiva favorable.ConclusionesLa actitud terapéutica dependerá del tamaño del tumor, el crecimiento, el grado de pérdida auditiva y los síntomas vestibulares. La implantación coclear en pacientes con SIL es posible cuando el nervio coclear está presente y es funcionante. El IC en el SIL, ya sea con exéresis previa o no del tumor, es una opción con buenos resultados auditivos en pacientes seleccionados. (AU)

Introduction and objective: Vestibular schwannoma is a benign tumour that originates in the eighth cranial nerve. It is termed intralabyrinthine schwannoma (ILS) when it develops in the inner ear, this being a rare origin. We present our experience in the management of three patients with ILS.Material and methodsThe results of tumour excision and cochlear implantation were evaluated in three patients with ILS: two intracochlear schwannomas (ICS) and one intravestibular schwannoma (IVS).ResultsPrior to surgery, all patients presented progressive sensorineural hearing loss and tinnitus. Complete tumour resection and cochlear implantation was possible in all patients, with favourable hearing rehabilitation.ConclusionsThe therapeutic approach will depend on tumour size, growth rate, degree of hearing loss and presence of vestibular symptoms. Cochlear implantation (CI) in patients with ILS is possible when the cochlear nerve is present and functional. CI in patients, whether or not preceded by tumour excision, is an option with good hearing results in selected patients. (AU)

Improving the Management of Patients with Hearing Loss by the Implementation of an NGS Panel in Clinical Practice.

A cohort of 128 patients from 118 families diagnosed with non-syndromic or syndromic hearing loss (HL) underwent an exhaustive clinical evaluation. Molecular analysis was performed using targeted next-generation sequencing (NGS) with a custom panel that included 59 genes associated with non-syndromic HL or syndromic HL. Variants were prioritized according to the minimum allele frequency and classified according to the American College of Medical Genetics and Genomics guidelines. Variant(s) responsible for the disease were detected in a 40% of families including autosomal recessive (AR), autosomal dominant (AD) and X-linked patterns of inheritance. We identified pathogenic or likely pathogenic variants in 26 different genes, 15 with AR inheritance pattern, 9 with AD and 2 that are X-linked. Fourteen of the found variants are novel. This study highlights the clinical utility of targeted NGS for sensorineural hearing loss. The optimal panel for HL must be designed according to the spectrum of the most represented genes in a given population and the laboratory capabilities considering the pressure on healthcare.

Guideline on cochlear implants. / Guía clínica sobre implantes cocleares.

INTRODUCTION: In the last decade numerous hospitals have started to work with patients who are candidates for a cochlear implant (CI) and there have been numerous and relevant advances in the treatment of sensorineural hearing loss that extended the indications for cochlear implants. OBJECTIVES: To provide a guideline on cochlear implants to specialists in otorhinolaryngology, other medical specialities, health authorities and society in general. METHODS: The Scientific Committees of Otology, Otoneurology and Audiology from the Spanish Society of Otolaryngology and Head and Neck Surgery (SEORL-CCC), in a coordinated and agreed way, performed a review of the current state of CI based on the existing regulations and in the scientific publications referenced in the bibliography of the document drafted. RESULTS: The clinical guideline on cochlear implants provides information on: a) Definition and description of Cochlear Implant; b) Indications for cochlear implants; c) Organizational requirements for a cochlear implant programme. CONCLUSIONS: A clinical guideline on cochlear implants has been developed by a Committee of Experts of the SEORL-CCC, to help and guide all the health professionals involved in this field of CI in decision-making to treathearing impairment.

Clinical guideline on bone conduction implants. / Guía clínica sobre implantes de conducción de vía ósea.

INTRODUCTION AND GOALS: During the last decade there have been multiple and relevant advances in conduction and mixed hearing loss treatment. These advances and the appearance of new devices have extended the indications for bone-conduction implants. The Scientific Committee of Audiology of the Sociedad Española de Otorrinolaringología y Cirugía de Cabeza y Cuello SEORL-CCC (Spanish Society of Otolaryngology and Head and Neck Surgery), together with the Otology and Otoneurology Committees, have undertaken a review of the current state of bone-conduction devices with updated information, to provide a clinical guideline on bone-conduction implants for otorhinolaryngology specialists, health professionals, health authorities and society in general. METHODS: This clinical guideline on bone-conduction implants contains information on the following: 1) Definition and description of bone-conduction devices; 2) Current and upcoming indications for bone conduction devices: Magnetic resonance compatibility; 3) Organization requirements for a bone-conduction implant programme. RESULTS AND CONCLUSIONS: The purpose of this guideline is to describe the different bone-conduction implants, their characteristics and their indications, and to provide coordinated instructions for all the above-mentioned agents for decision making within their specific work areas.

Audiological findings in children with mucopolysaccharidoses type i-iv. / Hallazgos audiológicos en niños con mucopolisacaridosis tipos i-iv.

OBJECTIVE: The aim of our study is to reflect hearing impairment of 23children diagnosed with mucopolysaccharidosis (MPS) typeI, II, III and IV. METHODS: Retrospective study of the clinical, audiological and treatment (medical vs surgical) findings of 23children diagnosed with MPS typeI, II, III or IV followed at a Tertiary Referral Hospital between 1997 and 2015. RESULTS: Six cases of MPSI, 8 of MPSII, 4 of MPSIII and 5 of MPSIV were reviewed. 71.2% of patients had secretory otitis media (SOM) and 54% of patients had some type of hearing loss (HL). The behaviour of hearing loss was variable in each of the subgroups of MPS, finding greater involvement and variability in typesI and II. CONCLUSIONS: Children with MPS have a high risk of hearing loss. A significant percentage of transmissive HL progressing to mixed or sensorineural HL was observed. This was more common in typesI and II. Periodic follow up of these patients is mandatory because of hearing impairment and consequences for their development and quality of life.

Malformation of the eighth cranial nerve in children. / Malformaciones del octavo par en niños.

INTRODUCTION AND OBJECTIVES: Prevalence of congenital sensorineural hearing loss (SNHL) is approximately 1.5-6 in every 1,000 newborns. Dysfunction of the auditory nerve (auditory neuropathy) may be involved in up to 1%-10% of cases; hearing losses because of vestibulocochlear nerve (VCN) aplasia are less frequent. The objectives of this study were to describe clinical manifestations, hearing thresholds and aetiology of children with SNHL and VCN aplasia. METHODOLOGY: We present 34 children (mean age 20 months) with auditory nerve malformation and profound HL taken from a sample of 385 children implanted in a 10-year period. We studied demographic characteristics, hearing, genetics, risk factors and associated malformations (Casselman's and Sennaroglu's classifications). Data were processed using a bivariate descriptive statistical analysis (P<.05). RESULTS: Of all the cases, 58.8% were bilateral (IIa/IIa and I/I were the most common). Of the unilateral cases, IIb was the most frequent. Auditory screening showed a sensitivity of 77.4%. A relationship among bilateral cases and systemic pathology was observed. We found a statistically significant difference when comparing hearing loss impairment and patients with different types of aplasia as defined by Casselman's classification. Computed tomography (CT) scan yielded a sensitivity of 46.3% and a specificity of 85.7%. However, magnetic resonance imaging (MRI) was the most sensitive imaging test. CONCLUSIONS: Ten percent of the children in a cochlear implant study had aplasia or hypoplasia of the auditory nerve. The degree of auditory loss was directly related to the different types of aplasia (Casselman's classification) Although CT scan and MRI are complementary, the MRI is the test of choice for detecting auditory nerve malformation.

Radiosurgery as treatment for acoustic neuroma. Ten years' experience.

INTRODUCTION AND OBJECTIVE: The acoustic neuroma is a benign tumour that usually affects the vestibular portion of the vestibulocochlear nerve. It represents 8% of all intracranial tumours and 80% of those arising at the cerebellopontine angle. There are 3 treatment options: microsurgery (the technique of choice), radiosurgery and observation. The objective of the study was to evaluate the results and side effects obtained using radiosurgery as treatment for acoustic neuroma. MATERIAL AND METHODS: We performed a review of all patients treated with radiosurgery (Gamma Knife and linear accelerator) at doses of 1200-1300 cGy for unilateral acoustic neuroma in our hospital from January 1999 until January 2010. In all patients we evaluated the overall state, tumour growth control rate (tumour smaller or remaining the same size), the involvement of v and vii cranial nerves and central nervous system disorders. We also assessed follow-up time and changes in hearing thresholds after radiosurgery. RESULTS: From a total of 35 patients studied, with a mean age of 58.29 years and lacking statistically significant differences in gender, the tumour growth control rate was over 90%. The main reason for visit (65.71%) was unilateral and progressive hearing loss. After treatment, 34.28% of patients had hearing loss. The involvement of the cranial nerves (v-vii) was transitory in 100% of cases. Gamma Knife radiosurgery was administered in 82.85% of patients. CONCLUSION: Although microsurgery is the treatment of choice for acoustic neuroma, we consider radiosurgery as a valid alternative in selected patients (elderly, comorbidity, small tumour size and sensorineural hearing loss, among others).

The role of diffusion-weighted magnetic resonance imaging in cholesteatoma diagnosis and follow-up. Study with the diffusion PROPELLER technique.

INTRODUCTION AND OBJECTIVES: The diagnosis of cholesteatoma is based on clinical evaluation and computed tomography. New non-echo-planar diffusion-weighted magnetic resonance imaging (MRI) techniques, without intravenous contrast, are capable of differentiating cholesteatoma from inflammatory tissue, cholesterol granuloma and granulation tissues. The technique is very helpful in differential diagnosis of cholesteatoma, mainly after canal wall-up tympanoplasty surgery, to avoid routine second-look surgery in these patients. Congenital cholesteatoma and difficult cases can be detected and correctly diagnosed as well. The aim of this study was to evaluate sensitivity, specificity, positive predictive value and negative predictive value of the diffusion-weighted PROPELLER MRI in cholesteatoma diagnosis. METHODS: A prospective study was performed on 52 patients. Clinical and surgical findings were correlated with diffusion-weighted PROPELLER MRI results. RESULTS: Sensitivity, specificity and positive and negative predictive values were 92.85%, 92.30, 92.85 and 92.30%, respectively. CONCLUSIONS: Diffusion-weighted PROPELLER imaging is an effective technique in cholesteatoma diagnosis. It is capable of detecting lesions larger than 2mm.

Objective tinnitus from palatal myoclonus. Use of botulinum toxin: a case report.

Objective tinnitus can have many different etiologies, palatal myoclonus being one of the less frequent. This type of tinnitus is generated by involuntary rhythmic contraction of the soft palate, which generates an audible click for the patient and for the explorer. Botulinum toxin achieves temporary muscle paralysis through presynaptic inhibition of the acetylcholine level at the neuromuscular union. We present a patient with long-term objective tinnitus, along with this patient's response to botulinum toxin injection.

Recurrent meningitis associated with Duane syndrome type I.

We present the case of a 17-month-old male patient with a bilateral Duane syndrome type 1 associated to unilateral cochleovestibular dysplasia, perilymphatic fistula and recurrent meningitis. Diagnosis was carried out by MRI and CT scan. His management and treatment are described, as well as the postoperative evolution. We believe this is an exceptional case due to the low frequency of this syndrome, as well as to the otoneurological complications.