Optimal management of Cogan’s syndrome: a multidisciplinary approach

Cogan's syndrome (CS) is a rare disorder characterized by nonsyphilitic interstitial keratitis (IK) and audio-vestibular symptoms. CS affects mainly young Caucasian adults, mostly during their first three decades of age, and may develop into typical and atypical variants. Typical CS manifests primarily with IK and hearing loss, whereas atypical CS usually presents with inflammatory ocular manifestations in association with audio-vestibular symptoms but mostly different Ménière-like symptoms and, more frequently, with systemic inflammation (70%), of which vasculitis is the pathogenic mechanism. CS is considered as an autoimmune- or immune-mediated disease supported mainly by the beneficial response to corticosteroids. Using well-developed assays, antibodies to inner ear antigens, anti-Hsp70, and antineutrophil cytoplasmic antibodies were found to be associated with CS. Corticosteroids represent the first line of treatment, and multiple immunosuppressive drugs have been tried with variable degrees of success. Tumor necrosis factor-alpha blockers and other biological agents are a recent novel therapeutic option in CS. Cochlear implantation is a valuable rescue surgical strategy in cases with severe sensorineural hearing loss unresponsive to intensive and/or innovative immunosuppressive regimens

Nasal manifestations in granulomatosis with polyangiitis: a case report and review of the literature

Granulomatosis with polyangiitis (GPA) is an anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides of medium and small arteries, characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract with coexist- ing glomerulonephritis. We report a case of GPA in a patient presenting with a six-month history of spontaneous epistaxis, nasal obstruction and frontal headache. Nasal endoscopy showed a large nasal septum perforation and an anterior translucid mass in the right nasal fossa. Findings were confirmed by computed tomography (CT) scan with contrast. The patient underwent func- tional transnasal endoscopic removal of the mass; histological examination showed tissue features suggestive of GPA; dosage of c-ANCA e p-ANCA antibodies confirmed GPA diagnosis. Nasal septum perforation has long been recognized as a feature of GPA, in which granulomatous destruction of nasal cartilage can result in perforation and saddle-nose deformity. Prompt diagno- sis of GPA is important to initiate therapy which may be life-saving and organ sparing

Vestibular schwannoma and ipsilateral endolymphatic hydrops: an unusual association

Vestibular schwannoma and endolymphatic hydrops are two conditions that may present with similar audio-vestibular symptoms. The association of the two in the same patient represents an unusual nding that may lead clinicians to errors and delays in diagnosis and clinical management of affected subjects. We discuss the case of a patient with an intrameatal vestibular schwannoma reporting symptoms suggestive for ipsilateral endolymphatic hydrops. The patient presented with uctuating hearing loss, tinnitus, and acute rotatory vertigo episodes, and underwent a full audiological evaluation and imaging of the brain with contrast-enhanced Magnetic Resonance Imaging. Clinical audio-vestibular and radiological examination con rmed the presence of coexisting vestibular schwannoma and endolymphatic hydrops. Hydrops was treated pharmacologically; vestibular schwannoma was monitored over time with a wait and scan protocol through conventional MRI. The association of vestibular schwannoma and endolymphatic hydrops is rare, but represents a possible nding in clinical practice. It is therefore recommended investigating the presence of inner ear disorders in patients with vestibular schwannoma and, similarly, to exclude the presence of this condition in patients with symptoms typical of inner ear disorders

Audio-vestibular symptoms in systemic autoimmune diseases

Immune-mediated inner ear disease can be primary, when the autoimmune response is against the inner ear, or secondary. The latter is characterized by the involvement of the ear in the presence of systemic autoimmune conditions. Sensorineural hearing loss is the most common audiovestibular symptom associated with systemic autoimmune diseases, although conductive hearing impairment may also be present. Hearing loss may present in a sudden, slowly, rapidly progressive or fluctuating form, and is mostly bilateral and asymmetric. Hearing loss shows a good response to corticosteroid therapy that may lead to near-complete hearing restoration. Vestibular symptoms, tinnitus, and aural fullness can be found in patients with systemic autoimmune diseases; they often mimic primary inner ear disorders such as Menière’s disease and mainly affect both ears simultaneously. Awareness of inner ear involvement in systemic autoimmune diseases is essential for the good response shown to appropriate treatment. However, it is often misdiagnosed due to variable clinical presentation, limited knowledge, sparse evidence, and lack of specific diagnostic tests. The aim of this review is to analyse available evidence, often only reported in the form of case reports due to the rarity of some of these conditions, of the different clinical presentations of audiological and vestibular symptoms in systemic autoimmune diseases

Ageusia, hyposmia, dizziness and tinnitus as presenting symptoms of multiple sclerosis

Multiple Sclerosis (MS) is a chronic inflammatory and neurodegenerative disease of the central nervous system characterized by the destruction of myelin sheaths and axonal loss. Presenting symptoms of multiple sclerosis may vary and if not promptly identified may lead to a delayed diagnosis of Multiple sclerosis. In this paper, we present a rare case of a patient with ageusia as presenting symptom of Multiple sclerosis; the symptom spontaneously resolved after two weeks and was followed by hyposmia, dizziness, tinnitus and facial paraesthesia that eventually led to a clinical diagnosis of Multiple sclerosis. The presence of gustatory, olfactory and audio-vestibular symptoms has been associated with disease activity and progression of several inflammatory and neurodegenerative diseases of the central nervous system including Multiple sclerosis. Gustatory alterations may be due to the presence of demyelinating lesion in the brain area of taste; the progression of the disease may explain the additional olfactory and audio-vestibular symptoms described in this patient. Even if taste alteration is an extremely rare presenting symptom of Multiple sclerosis, its presence in young women should always be carefully investigated as it could be an early sign of Multiple sclerosis

Sporadic High-Grade Malignant Peripheral Nerve Sheath Tumor of the Hypoglossal Nerve

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Tumore maligno delle guaine nervose periferiche (MPNST) con origine dal nervo ipoglosso: case report.

RAZIONALE: I tumori maligni delle guaine nervose periferiche (MPNST) sono tumori maligni rari che originano dai nervi periferici caratterizzati da una prognosi infausta e da un comportamento aggressivo con un alta probabilità di recidiva locale e metastasi a distanza. METODI In questo case report viene descritto un raro caso di MPNST in una donna di 50 anni senza altre comorbidità, che giunge alla nostra attenzione per disfagia ingravescente a cibi solidi e progressivo deficit di protrusione linguale. Le indagini radiologiche mostravano una massa situata nello spazio parafaringeo destro ed escludevano una possibile eziologia vascolare. La paziente è stata sottoposta ad escissione chirurgica della neoformazione mediante approccio per via transcervicale. Il tumore risultava strettamente adeso al nervo ipoglosso destro da cui era difficilmente dissociabile. La diagnosi istologica definitiva deponeva per MPNST RISULTATI In letteratura vengono descritti 9 casi di MPNST dello spazio parafaringeo e nessuno di questi ha origine dal nervo ipoglosso. Questo tipo di tumore rientra nei sarcomi di alto grado che istologicamente sono caratterizzati dalla presenza di cellule fusate, focalmente pleomorfe, di alto grado e multinucleate. La diagnosi di MPNST è data dall’analisi immunofenotipica che mostra la positività focale per MDM2 e perdita di espressione nucleare di H3K27me, S100, desmina, miogenina, actina muscolare liscia e citocheratine AE1/AE3. CONCLUSIONI Gli MPNST hanno un’incidenza dello 0,001% nella popolazione generale. Nei pazienti affetti da Neurofibromatosi 1 l’incidenza varia dal 5 al 10%. Nel 10-15% dei casi gli MPNST si localizzano nelle regioni della testa e del collo interessando soprattutto le porzioni intracraniche del VIII, V e VII nervo cranico. La sopravvivenza a 5 anni per gli MPNST varia dal 26 al 60%. Il principale fattore prognostico è la completa escissione chirurgica del tumore: la sopravvivenza media è di 30 mesi nei casi di completa escissione che scende a 19 mesi nei casi in cui il tumore non è stato completamente escisso

The prognostic value of adding narrow-band imaging in transoral laser microsurgery for early glottic cancer: a review

Background and Objectives Transoral laser microsurgery (TLM) is a universally recognized safe and minimally invasive approach for early glottic cancer. Narrow band imaging (NBI) is an optical technique working with a filtered light that reveals superficial mucosal abnormalities through the neoangiogenic pattern. The aim of this systematic review is to demonstrate the role of intraoperative NBI during TLM for early glottic cancer to better evaluate tumor extension and for more precise margin resection. Study Design/Materials and Methods A systematic review of the literature following the PRISMA guidelines was performed. A literature search was performed using the following keywords: TLM, NBI, and early glottic cancer. Two independent authors evaluated the extracted data. Data regarding status of surgical margins after TLM, local recurrence, recurrence-free survival, and need of additional samples following NBI were collected. Results Five articles met inclusion criteria with a total of 577 patients undergoing TLM with intraoperative NBI. A significant reduction of positive superficial margins was found in patients treated with (52%) and without (28.6%) intraoperative use of NBI (P < 0.05) Conclusions Routine use of intraoperative NBI increases the accuracy of neoplastic superficial spreading evaluation and accuracy of mass resection during TLM for early glottic cancer. The significant reduction of superficial positive margins dramatically decreases the number of patients at risk and improves clinical outcomes. Lasers Surg. Med. (c) 2019 Wiley Periodicals, Inc

The role of differential diagnosis in intravascular papillary endothelial hyperplasia of the sinonasal cavity mimicking angiosarcoma: a case report

Intravascular papillary endothelial hyperplasia (IPEH), also known as Masson's tumour, is an unusual vascular lesion characterized by the proliferation of endothelial cells. The principal significance of IPEH is its clinical and radiological resemblance to angiosarcoma, resulting in a potential misdiagnosis and overtreatment. The aim of the present study is to report a rare case of IPEH of the right maxillary sinus, focusing on the radiological and histopathological features of the neoplasm and their role in the differential diagnosis with angiosarcoma. Herein we present a case of a 67-year-old woman with history of right-sided nasal obstruction. A computed tomography scan indicated opacity in the right maxillary sinus and significant bony erosion, and an magnetic resonance imaging revealed a highly vascularized polylobed neoplasm, suggesting a malignant neoplasm. The mass was removed surgically through a combined open and endoscopic approach. A perioperative biopsy excluded malignancy and histological examination was consistent with IPEH. IPEH in the sinonasal cavity is an extremely rare condition in which differential diagnosis serves a central role due to its close clinical and radiological resemblance to angiosarcoma. Awareness of IPEH is recommended for a correct diagnosis, and in order to avoid unnecessarily aggressive treatment

La chirurgia sub-totale della laringe: problematiche ancora aperte

.Il carcinoma della laringe rappresenta il 2-3% di tutte le neoplasie; il sesso maschile è nettamente quello più colpito mentre solo il 5-8% dei casi è riscon- trabile nel sesso femminile. Il picco di incidenza è intorno ai 65 anni; in Europa, il 60% dei nuovi casi di carcinoma della laringe si riscontra in pazienti oltre i 65 anni di età. In Italia l’incidenza è massima tra i 65 e i 75 anni (fig. 1). Attualmente si registrano in Italia circa 5500 nuovi casi di cancro della laringe ogni anno, di cui 5 000 circa nel solo sesso maschile. La storia naturale dei car- cinomi squamocellulari della laringe è caratterizzata dalla crescita locale e dalla diffusione regionale e negli stadi avanzati, a distanza. I carcinomi della laringe si sviluppano con maggiore frequenza sul piano glottico, e appaiono nella maggior parte dei casi come lesioni leucoplasiche e/o eritroplasiche con uno sviluppo su- perficiale, seguendo le barriere anatomiche nelle fasi iniziali