CANVAS: A New Genetic Entity in the Otorhinolaryngologist's Differential Diagnosis.

OBJECTIVE: The biallelic inheritance of an expanded intronic pentamer (AAGGG)exp in the gene encoding replication factor C subunit 1 (RFC1) has been found to be a cause of cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS). This study describes clinical and genetic features of our patients with clinical suspicion of the syndrome. STUDY DESIGN: A retrospective descriptive study from an ataxia database comprising 500 patients. SETTING: The study was performed at the Otorhinolaryngology Department of a hospital in the north of Spain. METHODS: Specific genetic testing for CANVAS was performed in 13 patients with clinical suspicion of complete or incomplete syndrome. The clinical diagnosis was supported by quantitative vestibular hypofunction, cerebellar atrophy, and abnormal sensory nerve conduction testing. RESULTS: Nine of 13 (69%) patients met clinical diagnostic criteria for definite CANVAS disease. The first manifestation of the syndrome was lower limb dysesthesia in 8 of 13 patients and gait imbalance in 5 of 13. Eleven of 13 (85%) patients were carriers of the biallelic (AAGGG)exp in RFC1. CONCLUSION: A genetic cause of CANVAS has recently been discovered. We propose genetic screening for biallelic expansions of the AAGGG pentamer of RFC1 in all patients with clinical suspicion of CANVAS, since accurate early diagnosis could improve the quality of life of these patients.

Facial paralysis: Clinical practice guideline of the Spanish Society of Otolaryngology. / Parálisis facial: guía de práctica clínica de la Sociedad Española de ORL.

Bell's palsy is the most common diagnosis associated with facial nerve weakness or paralysis. However, not all patients with facial paresis/paralysis have Bell's palsy. Other common causes include treatment of vestibular schwannoma, head and neck tumours, iatrogenic injuries, Herpes zoster, or trauma. The approach to each of these conditions varies widely. The purpose of this guideline is to provide clinicians with guidance on the treatment and monitoring of patients with different causes of facial paralysis. We intend to draft a practical guideline, focusing on operationalised recommendations deemed to be useful in the daily management of patients. This guideline was promoted by the Spanish Society of Otolaryngology and developed by a group of physicians with an interest in facial nerve disorders, including at least one physician from each Autonomous Community. In a question and answer format, it includes 56 relevant topics related to the facial nerve.

Contralateral sensorineural hearing loss after vestibular schwannoma surgery.

INTRODUCTION: Contralateral sensorineural hearing loss (CSNHL) after vestibular schwannoma (VS) is a severe complication, especially in those cases in which hearing preservation in the operated side was not possible. There are several theories that attempt to explain this issue, but there is no established guideline of treatment. MATERIAL AND METHODS: We report 4 patients treated in our institution who developed a severe CSNHL after surgery. RESULTS: Of the 185 cases of VS treated with surgery, 4 patients (2.2%) developed a CSNHL after VS surgery. After medical treatment, partial recovery of hearing occurred in one patient the other 3 patients presented a well-established severe SNHL. CONCLUSIONS: Established treatment guidelines do not exist, but the use of high doses of corticosteroids has been recommended and cochlear implant in cases with no recovery and complete hearing loss may be useful.

Treatment of the first bite syndrome. / Tratamiento con toxina botulínica del síndrome del primer mordisco.

First bite syndrome is a potential complication of surgery involving the infratemporal fossa, deep lobe of the parotid gland and parapharyngeal space. It is described as an acute and intense pain in the parotid region caused with the first bite of each meal. It is related to damage to sympathetic innervation of the parotid gland. Parasympathetic hyperactivation is believed to stimulate an exaggerated myoepithelial cell contraction causing pain. Usual analgesic treatments have poor results. Botulinum toxin type A causes parasympathetic nerve paralysis of the parotid gland and this fact would minimize salivation and decrease first bite syndrome. The aim of this study is to show the details of the technique and our outcomes in 5 patients treated with botulinum toxin type A.

Cutaneous complications in osseointegrated implants: comparison between classic and tissue preservation techniques.

INTRODUCTION AND OBJECTIVES: The standard surgical technique for osseointegrated hearing aids involves removing a large area of subcutaneous tissue down to the periosteum. Recently, the industry has designed a new range of abutment lengths for less invasive surgery with soft tissue preservation. This study compared and evaluated the complications in the standard and the tissue preservation techniques. MATERIAL AND METHODS: This was a prospective study including 29 adult patients that underwent single-stage osseointegrated hearing aids insertion between February 2009 and February 2013. We performed the standard technique in 14 patients, and the tissue preservation technique in 15. Soft tissue complications were graded according to the Holgers classification. RESULTS: No patient required removal of implant or revision surgery. Although the Holgers grade was always worse in the standard technique (reaction score of 3 or higher was 28% versus 7% at a month), the complication rate was not statistically significant between the 2 groups at any postoperative time a week (p=0.233), a month (p=0.470) and a year (p=0.401). CONCLUSION: In our experience the tissue preservation technique, without soft tissue reduction, is the procedure of choice for bone anchored implant surgery. The preservation technique is easier, faster and possible with local anaesthesia and has similar postoperative outcomes.

Management of petrous bone cholesteatoma: open versus obliterative techniques.

The objective of this study was to expose our results in the treatment of petrous bone cholesteatomas (PBC), paying attention to diagnosis, surgical strategy, facial management, results, and recurrences. The main objective is to compare the results of obliterative and open techniques in their management concerning the recurrence rate, due to the controversy elicited on obliterative or closed techniques in large cholesteatomas. A retrospective study was performed from July 1977 to September 2007 at the Tertiary referral cranial base center. Thirty-five patients were treated for PBC through different surgical approaches, and in 25 cases (72%) the surgical cavity was obliterated with a muscle flap. Four patients (11%) had a long-term recurrence. These patients received an open technique and after surgical re-exploration using a closed technique they had no recurrence. There were no recurrences in patients who underwent an obliterative technique and they received periodic MRI controls. The facial function after surgery was acceptable (71% of patients had House-Brackmann grades I to III). PBC is a complex pathology and presents difficulties in its diagnosis and treatment. Surgical technique should be suitable for removing the pathology and preventing damage to structures such as the facial nerve or great vessels. Obliterative techniques, where possible, are at least as safe as open cavity procedures and they have fewer postoperative complications; however, regular follow-up with CT and MRI is mandatory.

[Procalcitonin plasma levels do not alter after uncomplicated skull base surgery]. / Las concentraciones de procalcitonina no se alteran en la cirugía de base de cráneo no complicada.

INTRODUCTION: Procalcitonin (PCT) is the precursor of the calcitonin hormone. Plasma concentrations of procalcitonin increase in systemic inflammation, especially when they are caused by bacterial infections. The aim of this study is to analyze and validate the baseline PCT concentrations after different types of skull base surgery and to test the hypothesis that PCT could be useful as an early marker of post-operative infectious complications, especially meningitis. MATERIAL AND METHOD: This is a prospective study of sixteen patients who underwent skull base surgery. PCT and C-reactive protein plasma levels, leukocytes and clinical symptoms were registered pre-operatively and 1, 2, and 5 days post-operatively. RESULTS: All patients had a normal post-operative course without clinical signs of infection. PCT concentrations did not increase above the normal range in any case. CONCLUSIONS: As PCT plasma concentration does not notably increase despite the inflammatory phenomena associated with uncomplicated skull base surgery, it may be possible to use PCT as an early marker for non-invasive study of post-operative infectious complications.

[Complete facial palsy following surgery for acoustic nerve neurinoma: evolution and associated ophthalmological complications]. / Parálisis facial completa tras cirugía de neurinoma del acústico: evolución y complicaciones oftalmológicas asociadas.

OBJECTIVE: To evaluate the fraction of patients recovering to normal function after complete facial nerve paralysis secondary to acoustic neuroma surgery, and also to address the ophthalmologic complications associated with it and the therapeutic options. MATERIAL AND METHOD: We performed a retrospective review of 30 cases operated on in our department for acoustic neuroma and who, despite anatomical preservation of the facial nerve, developed a complete post-operative facial nerve paralysis (grade VI of House-Brackmann [HB]). We analyzed the evolution of the facial paralysis in relation to the tumour size, patient age, surgical approach and localization of the tumour. In addition, we studied the ophthalmologic complications and their treatment. RESULTS: Only 5 of the 30 cases studied (16.6 %) recovered to normal facial nerve function (HB grade I). We observed a tendency for a poor recovery of the cases with tumour size bigger than 2 cm, males, those older than 65 years and lesions resected by the translabyrinthine approach. Only 1 patient presented serious ophthalmologic complications. CONCLUSIONS: Our study reveals that only a small percentage of patients achieve total recovery of facial function. We have to be on the alert to ocular complications in this kind of patient.

[Unusual clinical presentations of vestibular schwannomas]. / Formas clínicas inusuales de presentación de los neurinomas del acústico.

The aim of this study is evaluate the unusual ways of initial presentation of the vestibular schwannomas. We performed a retrospective study of the patients who underwent resection of acoustic neuromas on our service, including for analysis only the cases which initial symptom was not the hearing loss. Tumor size, localization, clinical presentation, and age of the patients were considered. Nine patients present with atypical symptoms. The most common complain in this group were facial paresthesias (22,2 %). None of them complained about other otological symptoms. A significant group of patients did not present with the otological symptoms classically associated with vestibular schwannoma. Clinical knowledge of these kinds of symptoms may lead to earlier detection of these lesions.

[Complications and sequelae in acoustic neuroma surgery]. / Complicaciones y secuelas en la cirugía de los neurinomas del acústico.

OBJECTIVE: To evaluate the complications and sequelae of acoustic neuroma surgery, according to tumour size. PATIENTS AND METHOD: A retrospective analysis of 120 patients who underwent microsurgical resection of vestibular schwannomas between November 1994 and September 2006 was undertaken. Tumour size, extent of removal, preservation of facial and cochlear nerves, complications, and sequelae were considered. The degree of hearing preservation after surgery was determined by the Gardner-Robertson classification. RESULTS: There were 39 small (<1.5 cm), 59 medium (1.5-3 cm), and 22 large tumours (>3 cm). Gross total resection was accomplished in 106 cases (88.3 %). The facial nerve was anatomically and functionally preserved in 103 cases on long-term follow-up (85.4 %). The cochlear nerve was functionally preserved (Gardner-Robertson class 1 and 2) in 54.4 % of the small tumours with useful preoperative hearing. Two patients died due to postoperative complications (mortality rate, 1.6 %), and 15 (12.5 %) developed a CSF leak. CONCLUSIONS: Despite the progress in the surgical treatment of acoustic neuromas, a considerable rate of complications and sequelae still remains. Therefore, there is a need to balance pros and cons of surgery in each patient according to the concurrent circumstances, as well as to consider other therapeutic strategies such as radiosurgery or a wait-and-see policy.