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Autoimmune inner ear disorder (AIED) diagnosis is based on the onset of bilateral sensorineural hearing loss (SNHL) that progresses over 3 to 90 days and responds to steroid treatment. Among autoimmune conditions, Cogan’s syndrome (CS) is a rare disorder characterized by the onset of inflammation in both eyes and in the inner ear, leading to progressive sensorineural hearing loss, particularly at high frequencies, often with vestibular symptoms. If left untreated, CS can cause profound bilateral hearing loss. The disease is believed to have an autoimmune etiology, although a common biomarker has not been clearly identified. Early-stage inner ear involvement in CS can mimic Menière’s Disease (MD), although key differences between phenotypes, such as the pattern and speed of progression, characterized by a pousseè evolution of bilateral high frequencies hearing loss rather than low frequencies fluctuating, help distinguish the two conditions. Few is known about imaging of the inner ear in patients with CS, and most of the insight into the radiological manifestation in the inner ear of this rare pathology came from the ‘90s. Recent advances in imaging, particularly with 3D-FLAIR MRI sequences after gadolinium administration, have shown promise in detecting endolymphatic hydrops (EH) in MD patients. Our study reports findings in five CS patients on whom we performed a 3 Tesla MRI, revealing EH in three of them. This is the first report of such a correlation in vivo, contributing valuable new insights into the radiological manifestations of CS.

Purpose of ReviewCogan’s syndrome (CS) is a rare systemic vasculitis that can severely affect vision and hearing, which may also have significant systemic effects. Early recognition of this autoimmune disorder and intervention can minimize disabling and irreversible damage.Recent FindingsThis article will review the varying clinical presentations of CS and emerging information of systemic disease associated with CS. We will also review recently published promising treatment outcomes using immune modulating medications.SummaryAs our framework for recognizing the markers of CS and the associated systemic disorders expands, more effective guidelines and treatment options may emerge.

Background Genetic ataxias are clinically heterogenous neurodegenerative conditions often involving rare or private mutations and it is often difficult to assign pathogenicity to rare gene variants solely based on DNA sequencing. An effective functional assay from an easy-to-obtain biospecimen would aid this assessment and be of high clinical value. SETX encodes a ubiquitous DNA/RNA helicase crucial for resolving R-loops and maintaining genome stability. Loss-of-function mutations cause a recessive disorder, Ataxia with Oculomotor Apraxia Type 2 (AOA2). Methods Here we utilize Weighted Gene Co-expression Network Analysis (WGCNA) from patient blood to construct an AOA2-specific transcriptomic signature as a biomarker to evaluate SETX variants in patients clinically suspected of having AOA2. Results WGCNA from peripheral blood RNA of 11 AOA2 patients from 7 families initially identified a single gene module that was modestly effective in distinguishing individuals with AOA2 from controls (sensitivity 73%, specificity 97%) and was able to robustly differentiate AOA2 patients from those with genetically distinct, yet phenotypically similar, neurological disorders (sensitivity 100%, specificity 100%). An independent derivation of the transcriptional biomarker identified a dual module model that was able to better distinguish individuals with AOA2 from controls (sensitivity 100%, specificity 97%). As validation, we examined a second cohort of 21 patients from 13 families and demonstrate that this dual module transcriptional biomarker could discriminate patients clinically suspected of AOA2 from controls (57%, 95%CI: 34%—78%). Overall, the transcriptional biomarker was able to separate AOA2 subjects ( n  = 32) from controls ( n  = 35) with 72% sensitivity and 97% specificity. Notably, this transcriptomic biomarker enabled verification of the first pathogenic SETX mutation found in a non-canonical transcript, expanding the spectrum of mutations that contribute to AOA2. Conclusions Our study identified a transcriptional biomarker that was able to differentiate AOA2 from controls and from other related neurological disorders, consequently expanding the spectrum of known pathogenic mutations. This proof-of-concept study illustrates that transcriptional biomarkers may be used to validate variants of uncertain significance in known genetic diseases.

Background Cogan's syndrome (CS) is a rare autoimmune disorder characterized by non-syphilitic interstitial keratitis (IK) and Menière-like cochlear vestibular symptoms, which may also have systemic effects. Corticosteroids are first-line treatment. DMARDs and biologics have been used to treat ocular and systemic symptoms of CS. Case presentation This is a case of a 35-year-old female who reported hearing loss, eye redness and photophobia. Her condition progressed to a sudden sensorineural hearing loss, tinnitus, and constant vertigo accompanied by cephalea. CS was diagnosed after excluding other diseases. The patient still developed bilateral sensorineural hearing loss after receiving hormone, methotrexate, cyclophosphamide, and a variety of biological agents. Joint symptoms were relieved after treatment with a JAK inhibitor (tofacitinib), and hearing did not deteriorate further. Conclusions CS should be involved in the differential diagnosis of keratitis. Early identification and intervention of this autoimmune disease can minimize disability and irreversible damage.

Background Cogan´s syndrome is a rare, presumed autoimmune vasculitis of various vessels characterized by interstitial keratitis and vestibular impairment accompanied by sensorineural hearing loss. Due to the rarity of Cogan´s syndrome in children, therapeutic decision making may be challenging. Therefore, a literature search was performed to collect all published paediatric Cogan´s syndrome cases with their clinical characteristics, disease course, treatment modalities used and their outcome. The cohort was supplemented with our own patient. Main text Altogether, 55 paediatric Cogan´s syndrome patients aged median 12 years have been reported so far. These were identified in PubMed with the keywords “Cogan´s syndrome” and “children” or “childhood”. All patients suffered from inflammatory ocular and vestibulo-auditory symptoms. In addition, 32/55 (58%) manifested systemic symptoms with musculoskeletal involvement being the most common with a prevalence of 45%, followed by neurological and skin manifestations. Aortitis was detected in 9/55 (16%). Regarding prognosis, remission in ocular symptoms was attained in 69%, whereas only 32% achieved a significant improvement in auditory function. Mortality was 2/55. Our patient was an 8 year old girl who presented with bilateral uveitis and a history of long standing hearing deficit. She also complained of intermittent vertigo, subfebrile temperatures, abdominal pain with diarrhoea, fatigue and recurrent epistaxis. The diagnosis was supported by bilateral labyrinthitis seen on contrast-enhanced magnetic resonance imaging. Treatment with topical and systemic steroids was started immediately. As the effect on auditory function was only transient, infliximab was added early in the disease course. This led to a remission of ocular and systemic symptoms and a normalization of hearing in the right ear. Her left ear remained deaf and the girl is currently evaluated for a unilateral cochlear implantation. Conclusions This study presents an analysis of the largest cohort of paediatric Cogan´s syndrome patients. Based on the collected data, the first practical guide to a diagnostic work-up and treatment in children with Cogan´s syndrome is provided.

A woman in her 20 s with a remote history of chronic iritis and bilateral sensorineural hearing loss presented with proptosis, eye pain, blurred vision and elevated intraocular pressures. Her medical history was significant for end-stage renal disease and congestive heart failure. Imaging was limited due to cochlear implants and a cardioverter defibrillator. Infectious and autoimmune investigations were negative. After initial management with topical pressure-lowering drops, she was started on systemic corticosteroids with rapid improvement in visual acuity and resolution of symptoms. The diagnosis of atypical Cogan syndrome was made by exclusion, based on her exam findings, ocular and auditory history, systemic features and positive clinical response to treatment. This case highlights the diagnostic challenges of atypical Cogan syndrome, particularly in the setting of delayed symptom onset and systemic involvement. Early recognition is essential, as timely corticosteroid therapy may prevent irreversible vision and hearing loss.

We present a case series consisting of three female patients in their 30s with presumed autoimmune uveitis resembling Cogan’s syndrome following caesarean sections (C-sections) with severe intraoperative bleeding and the use of chitosan-tamponade, exhibiting a combination of varying ocular and auditory symptoms postoperatively. Our patients displayed a range of inflammatory ocular changes, including stromal keratitis, panuveitis, retinal infiltrates, haemorrhages, optic disc swelling, and intraretinal and subretinal fluid, along with otalgia and hearing loss, consistent with typical and atypical Cogan’s syndrome. Treatment involved systemic corticosteroids, resulting in variable outcomes. Given the rarity of this disease and its occurrence in similar circumstances, we investigated for a possible common trigger. Vigilance for ocular and auditory symptoms post-C-section, severe blood loss or after the use of chitosan is emphasised, and further research into potential triggers is warranted.

Background Cogan's syndrome is a rare autoimmune disorder characterized by ocular inflammation, vestibulocochlear dysfunction, and systemic vasculitis. Case Presentation We report a 28-year-old female who experienced decreased visual acuity and ocular redness one month after a COVID-19 infection, with ophthalmological signs linked to keratitis, uveitis and retinal vasculitis. Two weeks later, she developed vertigo, tinnitus, and sudden hearing loss, leading to a diagnosis of Cogan's disease. The patient received corticosteroid therapy, resulting in regression of ophthalmological signs, but progressed to complete deafness. One month later, she presented with lymphocytic meningitis and high intracranial pressure, which improved under treatment. The patient later received cochlear implants. Objective This case report aims to highlight an atypical presentation of Cogan's syndrome with neurological involvement following a COVID-19 infection. This case contributes to the limited literature on such presentations. Conclusion Our case is one of only two reported instances of Cogan's syndrome presenting with neurological signs post-COVID-19 infection, underscoring the rarity and complexity of this condition.

A 55-year-old man was evaluated in the rheumatology clinic because of bilateral hearing loss and eye redness. He had had fatigue and intermittent body aches for 2 months and had lost 5 kg of weight over a 6-month period. There was redness in both eyes and grossly reduced hearing in both ears. A diagnostic test was performed.

Vasculitis, characterized by inflammation of vessel walls, is comprised of heterogeneous clinicopathological entities, and thus poses a diagnostic challenge. The most widely used approach for classifying vasculitides is based on the International Chapel Hill Consensus Conference (CHCC) nomenclature system. Based on the recently revised CHCC 2012, we propose computed tomography (CT) features of vasculitides and a differential diagnosis based on location and morphological characteristics. Finally, vasculitis mimics should be differentiated, because erroneous application of immunosuppressive drugs on vasculitis mimics may be ineffective, even deteriorating. This article presents the utility of CT in the diagnosis and differential diagnosis of vasculitides.