Cogan's Syndrome Research Articles

119 Cogan syndrome: a rare vasculitis manifesting with rapid visual and hearing impairment

119 Cogan syndrome: a rare vasculitis manifesting with rapid visual and hearing impairment

Screening for ocular involvement in deaf children

L'association de la surdité aux troubles visuels est fréquente. Ces troubles vont de simple anomalie de la réfraction jusqu'à la maladie grave qui peut constituer un handicap. D'où l'intérêt d'un dépistage précoce. L'objectif de cette étude est de montrer l'importance de la collaboration multidisciplinaire et la nécessité de l'examen ophtalmologique chez chaque enfant présentant une surdité à travers cette étude prospective. Il s'agit d'une étude prospective monocentrique colligeant 200 enfants suivis pour hypoacousie de janvier 2014 à janvier 2015. Chaque enfant a bénéficié d'un examen ophtalmologique complet; examen ORL; et un examen général. Cent cinquante-cinq dossiers ont été colligés. Une atteinte oculaire était constatée chez 47 patients soit 30,4% des enfants. Elle est bilatérale chez 45patients. Les principales étiologies étaient syndromiques (syndrome d'Usher (8cas), syndrome de Waardenbourg (5 cas), syndrome d'Alport (3 cas), syndrome de Wolfram (2 cas), syndrome de Goldenar (3 cas), syndrome de Cogan (3 cas), syndrome de Fracheschetti (1 cas), syndrome de Charge (1 cas), syndrome otomandibulaire (1 cas), syndrome de Stickler (1 cas), syndrome d'Alstrom (1 cas), syndrome de Refsum (1 cas), syndrome de Susac (1 cas) et KID syndrome (1 cas)). Le dépistage de l'atteinte oculaire a permis de raccourcir le délai d'attente pour implant cochléaire de 9 mois à 3 mois. Les atteintes oculo auditives sont très nombreuses du fait de la similitude embryologique et cellulaire de ces deux organes, notamment la rétine et l'oreille interne. Le diagnostic de ces atteintes est facilité par l'existence d'une dysmorphie faciale, en revanche, il reste difficile lorsqu'il existe que les atteintes neurosensorielles visuelles et auditives. La précocité du diagnostic des atteintes oculo auditives permet un meilleur développement psychomoteur et une insertion sociale optimale. Donc la prise en charge pluridisciplinaire précoce est nécessaire afin de permettre la meilleure rééducation psychomotrice, orthophonique et visuelle.

Cogan Syndrome Accompanied with Meningitis

Cogan syndrome is a rare inflammatory disease characterized by intraocular inflammation and vestibulo-auditory dysfunction. The exact etiology of Cogan syndrome is still unknown, but is currently thought to be an autoimmune disease. Cogan syndrome can be accompanied with various conditions including fever, arthritis, skin rash, aortitis, central or peripheral nerve system involvement, lymphadenopathy, splenomegaly and diarrhea. We report a case of Cogan syndrome accompanied with meningitis. Keywords: Cogan syndrome; Meningitis; Vasculitis 중심 단어: Cogan 증후군, 뇌수막염, 혈관염

Les endocardites non infectieuses

Non-infective endocarditis, also referred to as non-bacterial thrombotic endocarditis, represent a wide range of rare pathologies, often severe. This review gathered the data available in the literature, to decipher the major information collected on the pathophysiology, the diagnosis and the treatment of these heterogeneous diseases, often misdiagnosed. Characteristics of non-infective endocarditis are similar to infective endocarditis in terms of valvular lesions (mostly left-sided, with regurgitations and vegetations), and their complications (embolism). The diagnosis of non-infective endocarditis is usually considered in patients with blood culture-negative endocarditis. Beyond the usual suspects – marastic endocarditis and systemic lupus erythematosus – which represent more than 75% of the cases, Behçet disease and hypereosinophilic syndrome are the main causes of non-infective endocarditis. More seldomly, rheumatoid arthritis, adult-onset Still disease, allergy to pork in patients with valvular procine bioprosthesis, systemic scleroderma, Cogan or Sneddon syndrome should be suspected. Diagnostic approach is based on history and physical examination, with a special focus on extra-cardiac manifestations, as well as echocardiography, and computed tomography. Treatment relies on intensive management of the underlying disease. Curative anticoagulation is often necessary. Although indications for cardiac surgery are poorly defined, as compared to infective endocarditis, data currently available suggest that an optimal control of the underlying disease before cardiac surgery is of utmost importance, as it dramatically reduces the risk of postoperative complications.

Associations rares ou trompeuses entre pathologies articulaires et pathologies ORL

Relapsing polychondritis frequently overlaps with various inflammatory rheumatisms, including vasculitis or Behçet's disease (MAGIC syndrome). Suspicion of auricular, nasal, or tracheal chondritis during history-taking can be reinforced by findings of PET-scan, which is highly sensitive for chondritis, and can also disclose associated aortitis. Cogan's syndrome (interstitial keratitis and cochleo-vestibular inflammation, with vertigo and hearing loss) is also often associated with aortitis and vasculitis. Gout tophi have been observed in the nose, ears, and temporo-mandibular joints. Blue stains of nose or ears should suggest ochronosis, especially when otoscopy reveals a contrast between discoloured cerumen and pigmented tympanic membranes. Rheumatoid nodules may affect vocal folds, and minor crico-arytenoid arthritis is frequently found in rheumatoid arthritis, but it can also worsen other rheumatic conditions. Respiratory distress with stridor is rarely encountered in rheumatic conditions but requires an emergency intubation. Pharyngitis unveils some Still's disease and may be complicated by retro-pharyngeal abscess or crico-thyroid perichondritis. Odynophagia is a clinical feature observed in various auto-inflammatory disorders, mainly mevalonate-kinase deficiency, but also TRAPS and PAPA syndromes (epiglottis oedema). PFAPA syndrome with periodic fever, pharyngitis, aphtous stomatitis, and cervical adenopathy, is often associated with arthalgias. Kikuchi syndrome (cervical necrotizing adenitis) can antedate lupus and Sjögren's syndromes. Remissions of polyarthritis following cure of nasal polyposis have been reported.

6q21q22.2 Deletion Syndrome with Ataxia and Congenital Ocular Motor Apraxia (Cogan´s Syndrome)

Congenital oculomotor apraxia, also known as Cogan´s syndrome [Cogan-type congenital ocular motor apraxia (COMA, OMIM 257550)], is a rare hereditary disease that affects the eye insofar as it cannot make horizontal movements voluntary. Of unknown etiology, it was described by Cogan in 1952 and, classically considered as a sporadic disease with autosomal dominant inheritance in some cases, and as an indicator of partial metabolic alterations or defects of neurological development in others. We present a newborn with 6q21q22.1 microdeletion, result of gestation after in vitro fertilization, which clinically manifests movement disorders including ataxia and characteristic clinical picture of Cogan´s syndrome (oculomotor apraxia); highlighting microcephaly and peculiar phenotype characterized by small eyes, sparse hair, broad nasal root with epicanthus and hypoplasia of nasal wings. Cerebral ultrasound showed Cysts of the Subependymal. Germinal Matrix. The 6q deletions are infrequent, with around 100 cases described, associated with variable phenotypes, including dysmorphic features, growth retardation, upper limb malformations, and Prader-Willi (PW)-like features; and few of them studied with high resolution cytogenetic techniques. Recently, in the study of three patients (one with ataxia and two with movement disorders), the 6q22.1 region has been proposed as critical (including the MARCKS, HDAC2, and HS3ST5 genes), a region that is also affected in our patient, and correlated with the ataxia phenotype, as the most outstanding data. So, from these results, the genetic heterogeneity of Cogan syndrome is inferred. In this article we also review the bibliography related to oculomotor apraxia associated with other movement disorders such as ataxia.

043 Cogan's syndrome with pyoderma gangrenosum: case report on management of two uncommon disorders with aggressive presentation in a patient

043 Cogan's syndrome with pyoderma gangrenosum: case report on management of two uncommon disorders with aggressive presentation in a patient

026 Cogan's syndrome with pyoderma gangrenosum: case report on management of two uncommon disorders with aggressive presentation in a patient

026 Cogan's syndrome with pyoderma gangrenosum: case report on management of two uncommon disorders with aggressive presentation in a patient

Клинический случай синдрома Когана в сочетании с острым течением рецидивирующего полихондрита.

Клинический случай синдрома Когана в сочетании с острым течением рецидивирующего полихондрита.

Autoimmune Inner Ear Disease: Immune Biomarkers, Audiovestibular Aspects, and Therapeutic Modalities of Cogan's Syndrome.

Cogan's syndrome (CS) is a rare autoimmune disorder characterized by audiovestibular dysfunction and ocular inflammation. Currently, there is no specific serum autoantibody used in the diagnostic workup of CS. Treatment is based on immunosuppressive agents, mainly corticosteroids as first-line choice. Recently, novel therapeutic modalities in CS have emerged. These include tumor necrosis factor-α inhibitors and other biologicals. Despite medical treatment, hearing loss may progress to irreversible bilateral profound SNHL in approximately half of CS patients resulting in candidacy for cochlear implantation (CI). Due to the inflammatory nature of the disease that is causing endosteal reaction with partial obliteration or complete neoossification of the intracochlear ducts, early CI is recommended. CI provides excellent and stable hearing rehabilitation with high score of word and sentence recognition. In this review, we will discuss different aspects of CS including clinical presentation, diagnosis, treatment, and future directives.

Cochlear Implantation in Cochlear Ossification: Retrospective Review of Etiologies, Surgical Considerations, and Auditory Outcomes

1) To review the surgical and auditory outcomes and complications of cochlear implantation in cases with cochlear ossification. 2) To evaluate association between the extent and etiology of ossification to outcomes. Retrospective study. Otology and skull base surgery center. Charts of 40 patients (42 ears) with cochlear ossification undergoing cochlear implantation were reviewed. Demographic features, operative findings, auditory outcomes, and complications were analyzed. Operative findings included extent of cochlear ossification, extent of drilling required to obtain patent cochlear lumen, approach (posterior tympanotomy/subtotal petrosectomy), electrode insertion (partial/complete, scala tympani/vestibuli), and complications. Auditory outcomes were assessed over a 4-year follow-up period using vowel, word, sentence, and comprehension scores. Patients were divided into groups (otosclerotic/non-otosclerotic and round window/basal turn ossification) for comparison of auditory outcomes. Outcomes were compared with 60 randomly identified controls (adults with postlingual deafness) who underwent implantation with no cochlear ossification. The median age and duration of deafness of patients was 54.39 and 27.15 years, respectively. Etiology of cochlear ossification was otosclerosis in 23 of 42 ears and mixed in 19 of 42 ears (chronic otitis media, temporal bone fractures, idiopathic, meningitis, Cogan's syndrome) with exclusive round window involvement in 54.7% of cases and the rest having partial or complete basal turn ossification. 59.5% ears underwent subtotal petrosectomy for implantation. Three patients underwent scala vestibuli insertion and five had incomplete electrode insertion. Auditory outcomes were comparable in otosclerotic and non-otosclerotic cases and in round window and basal turn ossification cases. No significant differences were observed in auditory scores when compared with controls with no ossification. Cochlear implantation in cochlear ossification is feasible despite surgical challenges and modifications. Auditory outcomes in basal turn ossification appear to be comparable to cases with no ossification with extent of ossification having no significant association with outcomes.

Ear Involvement in Inflammatory Bowel Disease: A Review of the Literature.

Inflammatory bowel disease (IBD) is a multisystemic disease. The ear is a rare but recognized site of extraintestinal manifestations of IBD. In external ear, the more common manifestations of IBD are pyoderma gangrenosum, metastatic Crohn’s disease and relapsing polychondritis and the treatment includes corticosteroids and anti-TNF agents. Sensorineural hearing loss (SNHL) is the most common ear disease in IBD and especially in patients with ulcerative colitis. In most cases of IBD patients with SNHL, the hearing loss is attributable to autoimmune inner ear disease (AIED). Diagnosis of AIED is based on clinical presentation, the demonstration of a progressive sensorineural hearing loss in periodic audiological tests, a response to immunosuppressive drugs and exclusion of other causes of SNHL. The only diagnostic test that is available for clinical use is the Otoblot test (Western blot for antibodies against 68 kD protein-inner ear antigens). Initial therapy is usually steroids, with a step up to anti-TNF-a therapy and cochlear implantations with failure of treatment. Furthermore, Cogan’s syndrome, a chronic disease characterized by deafness, vertigo keratitis and aortitis, has been associated with IBD and mainly with Crohn’s disease.

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.

Cogan syndrome: Characteristics, outcome and treatment in a French nationwide retrospective study and literature review.

Cogan syndrome is mainly treated with steroids. We aimed to determine the place of DMARDs and biologic-targeted treatments. We conducted a French nationwide retrospective study of patients with Cogan syndrome (n=40) and a literature review of cases (n=22) and analyzed the efficacy of disease-modifying anti-rheumatic drugs (DMARDs) and tumor necrosis factor α (TNF-α) antagonists. We included 62 patients (31 females) (median age 37years [range 2-76]. At diagnosis, 61 patients (98%) had vestibulo-auditory symptoms, particularly bilateral hearing loss in 41% and deafness in 31%. Ocular signs were present in 57 patients (92%), with interstitial keratitis in 31 (51%). The first-line treatment consisted of steroids alone (n=43; 70%) or associated with other immunosuppressive drugs (n=18; 30%). Overall, 13/43 (30%) and 4/18 (22%) patients with steroids alone and with associated immunosuppressive drugs, respectively (p=0.8), showed vestibulo-auditory response; 32/39 (82%) and 15/19 (79%) ocular response; and 23/28 (82%) and 10/14 (71%) general response. Overall 61 patients had used a total of 126 lines of treatment, consisting of steroids alone (n=51 lines), steroids with DMARDs (n=65) and infliximab (n=10). Vestibulo-auditory response was significantly more frequent with infliximab than DMARDs or steroids alone (80% vs 39% and 35%, respectively), whereas ocular, systemic and acute-phase reactant response rates were similar. Infliximab was the only significant predictor of vestibulo-auditory improvement (odds ratio 20.7 [95% confidence interval 1.65; 260], p=0.019). Infliximab could lead to vestibulo-auditory response in DMARDS and steroid-refractory Cogan syndrome, but prospective studies are necessary.

Late-onset Cogan's syndrome associated with large-vessel vasculitis

Cogan's syndrome is a rare autoimmune disease that usually affects young Caucasian adults and is classically defined as the combination of nonsyphilitic interstitial keratitis and audiovestibular symptoms resembling Meniere's disease, both of them developed in an interval of less than two years. Nevertheless, cases with atypical ophthalmologic and audiovestibular features, with systemic manifestations or affecting children and older patients have also been reported, expanding the clinical spectrum of Cogan's syndrome. Herein, we present the case of a late-onset Cogan's syndrome associated with a large-vessel vasculitis.

P1_163 Aneurysm of the Left Main Coronary Trunk in Cogan's Syndrome

P1_163 Aneurysm of the Left Main Coronary Trunk in Cogan's Syndrome

Systemic Lupus Erythematosus and hearing disorders: Literature review and meta-analysis of clinical and temporal bone findings.

ObjectiveThis literature review and meta-analysis was performed to evaluate the correlations among hearing and vestibular clinical symptoms, temporal bone findings, and pathological mechanisms in patients with systemic lupus erythematosus (SLE).Study designRelevant papers in the literature were retrospectively reviewed. Clinical hearing aspects in patients with SLE and relevant temporal bone studies in the same field were analyzed.MethodsPubMed and Google Scholar searches were performed using the following keywords: “auto-immune disease,” “systemic lupus erythematosus (SLE),” “hearing loss,” “temporal bone study,” “vertigo,” “dizziness,” “tinnitus,” “ear symptoms,” “treatment,” “diagnosis,” “symptoms,” “etiopathogenesis,” “Wegener granulomatosis,” “Sjogren,” “polyarteritis nodosa,” “Cogan syndrome,” and “granulomatosis.” Also included were reviews in which the following terms were present: “SLE,” “temporal bone,” and “hearing symptoms.”Review and conclusionThis literature review and meta-analysis focused on the pathological mechanisms through which SLE can damage inner ear structures and determinate hearing and vestibular symptoms. The main mechanisms involved in inner ear damage include the autoimmune response, deposition of immune complexes in the vessels and, to a lesser extent, cytotoxic damage.

Cogan's syndrome: State of the art of systemic immunosuppressive treatment in adult and pediatric patients.

The aim of this study was to systematically evaluate the evidences for treatment of Cogan's syndrome (CS), with reference to adult and younger patients described in the literature. DATA SOURCES: Studies reviewed were English language original articles ranging from 1990 to 2016 reporting data for subjects with CS (typical and atypical) undergoing any systemic treatment other than steroids alone. Medline/EMBASE, Cochrane Library were searched. The full text of articles meeting selection criteria was reviewed for: study type, diagnosis, number of subjects, treatment type and duration, clinical and/or functional outcomes, possible systemic manifestation or other autoimmune syndromes combined. The authors identified 76 relevant reports: 4 prospective studies, 2 retrospective studies, 12 case series and 58 case reports. The studies included a total of 141 new patients: based on the available data, 46 men and 50 women with a mean age of 33years (range 5-69). In the descriptive analysis adult patients (N=87) were separated from pediatric patients (<18years old) (N=17). Concerning treatment strategies, except for a first-line approach to check for a rapid remission, or for a drug sensibility often supporting the diagnosis, a long-term steroidal monotherapy is no longer recommended in CS. As in other autoimmune and rheumatologic diseases, combined treatment with steroid-sparing immunosuppressant agents, also considering "biological" drugs, is nowadays preferred. However, the evidence of clearly effective or preferable treatment options for CS remains lacking, mostly due to the rarity of the disease and to the consequent difficulty in organizing high-quality prospective trials.

Interstitial keratitis in patients with Cogan’s Syndrome

Cogan's syndrome is characterized by interstitial keratitis non-syphilis associated with vertigo, tinnitus and sensorineural hearing loss. We report a case that illustrates a model of multidisciplinary intervention in the diagnosis and treatment of disease.

Artériopathies périphériques juvéniles

Peripheral arterial disease (PAD) encompasses disease of all arteries of the body except the coronary arteries. The main etiology whatever the patient's age is atherosclerosis. Different etiologies can induce PAD especially when patients are younger than 50 years old and have no cardiovascular risk factors (smoking, hypertension, diabetes…). PAD that appears before 50 years old can be named juvenile PAD (JPAD) although there is no consensus about the definition. The aim of this work is to present the different etiologies of JPAD according to their hereditary, acquired or mixed origins. The following hereditary causes are addressed: Marfan syndrome, Ehlers-Danlos syndrome, homocystinuria, pseudoxanthoma elasticum, osteogenesis imperfecta “mid-aortic” syndrome. Among the acquired etiologies, inflammatory JPADs without extravascular signs such as atherosclerosis and Buerger's disease, inflammatory JPADs with extravascular signs as Takayasu's disease, Behçet's disease and Cogan's syndrome, JPADs like aortitis, embolic JPADs, iatrogenic JPADs, and mechanical or traumatic JPADs are described. Finally, mixed origins as thrombotic disease and fibromuscular dysplasia are presented. This work will assist clinicians in the diagnosis of JPAD.