Rare primary vasculitis: update on multiple complex diseases and the new kids on the block.

Systemic vasculitis is a group of rare diseases that share an essential characteristic: inflammation of blood vessel walls. This injury occurs during the disease course, but specific features vary for each entity. In this paper, we will address relevant aspects of the newest monogenic mutation vasculitis, such as deficiency of adenosine deaminase 2 (ADA2) and VEXAS syndrome (UBA1), and other relevant vasculitis, such as Cogan syndrome and Susac syndrome that may share some similarities with them.

Atypical Cogan's syndrome: A case report.

Cogan's syndrome is a rare autoimmune inflammatory disease, characterized by interstitial keratitis and audio-vestibular signs. The syndrome was first described in 1945 by David G. Cogan. Then, it was only in 1980 when Haynes et al. proposed diagnostic criteria for patients with other symptoms and was qualified as atypical form of Cogan's syndrome. Herein, we report a case of a 28-year-old woman with atypical Cogan's syndrome. The patient was treated with corticosteroids and received a cochlear implant.

Cogan syndrome: a case report and review of the literature.

Cogan syndrome is a rare disease whose etiology is still undetermined. It typically affects men and women between the second and fourth decade of life. We report a case of Cogan syndrome with ocular and audio-vestibular involvement as a systemic manifestation in a 31-year-old woman.

Cogan Syndrome: A Case Study and Review of the Literature.

Cogan syndrome is an autoimmune disease characterized by vestibular symptoms, bilateral sensorineural hearing loss, and inflammatory ocular manifestations, which may be accompanied by systemic vasculitis. We herein present the case of a patient with bilateral sensorineural hearing loss who presented with pain over her cochlear implantation incision site. She was later found to have evidence of ocular disease and underlying vasculitis leading to a diagnosis of Cogan syndrome.

Speech reception after cochlear implantation for Cogan's syndrome: Case series following CARE guidelines.

INTRODUCTION: Cogan's syndrome is a rare form of vasculitis mainly affecting young subjects of whatever gender, associating cochleovestibular and ophthalmological damage. Despite medical treatment, auditory prognosis is uncertain, with 50-60% of patients showing irreversible severe to profound hearing loss, thus being candidates for cochlear implantation. Following CARE guidelines, we report 10 cases of cochlear implantation in Cogan's syndrome, with assessment of speech reception threshold and maximum intelligibility after a minimum 1 year's experience with the implant. CASE SERIES: Ten patients from 4 centers received cochlear implants (14 implants) for Cogan's syndrome between 2005 and 2020. After 1 year's experience, there was significant improvement in speech reception threshold (P=0.0002) and maximum intelligibility (P=0.0002). CONCLUSION-DISCUSSION: Audiovestibular signs associated with ophthalmological manifestations should suggest Cogan's syndrome. Hearing impairment is usually irreversible. Cochlear implantation may be necessary and improves hearing performance.

Paediatric Cogan´s syndrome - review of literature, case report and practical approach to diagnosis and management.

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.

Cogan's syndrome is more than just keratitis: a case-based literature review.

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.

Atypical Cogan's Syndrome with Large-vessel Vasculitis Successfully Treated with Tocilizumab.

A 61-year-old man presented with weight loss, bilateral ocular redness, blurred vision, and sensorineural hearing loss. Fluorodeoxyglucose-position emission tomography/computed tomography demonstrated an uptake in the ascending and descending aorta, abdominal aorta and femoral arteries. Atypical Cogan's syndrome complicated with large-vessel vasculitis (LVV) was diagnosed. He was treated with high-dose prednisolone and subcutaneous tocilizumab (162 mg/week), resulting in successful improvements in his ocular and vascular involvements. Although there is currently no established treatment strategy for LVV associated with Cogan's syndrome, our case and literature review suggest that tocilizumab is a viable treatment option for this rare but life-threatening complication.

[Epithelial basement membrane corneal dystrophy: A case report]. / Distrofia de membrana basal epitelial corneal: a propósito de un caso.

Epithelial basement membrane corneal dystrophy is a rare entity, characterized by recurrent corneal erosions secondary to a disorder in the attachment of the corneal epithelium to the basement membrane. To date, mainly the ophthalmological aspect of cases has been reported, with little emphasis on the pathology of this lesion. Here we aim to describe the microscopy and discuss the clinical and therapeutic aspects of a case.

[Vertigo and ocular inflammation: Cogan syndrome]. / Duizeligheid en een oogontsteking: het Cogan-syndroom.

BACKGROUND: Cogan syndrome is a rare inflammatory condition that mainly affects adults and is characterised by inflammation of various ocular structures and by audiovestibular symptoms such as hearing loss and vertigo. CASE DESCRIPTION: A 63-year old woman recently diagnosed with an anterior uveitis presented at A&E with vertigo, nausea, vomiting, tinnitus and headache, and she developed bilateral sudden deafness within days. Blood testing revealed elevated inflammatory parameters, without signs of infection. Additional laboratory and imaging tests showed no abnormalities. We finally diagnosed her with Cogan syndrome. Our patient started oral prednisolon and methotrexate and she gradually improved. CONCLUSION: Cogan syndrome is a rare inflammatory condition that warrants a multidisciplinary approach by an ophthalmologist, neurologist, ENT-physician, and rheumatologist / immunologist for swift diagnosis and treatment with immunosuppressive medication. A timely recognition of the syndrome at first presentation and with new flares improves the chances of full or partial recovery.

Acute Limb Ischemia in Cogan Syndrome.

BACKGROUND Cogan syndrome is a rare autoimmune disorder associated most frequently with ocular, vestibular, and auditory involvement from presumed small vessel vasculitis. Cogan syndrome, in a significant proportion of patients, can progress to systemic symptoms, including gastrointestinal, neurologic, and musculoskeletal manifestations. Large-vessel involvement has also been described in some cases (eg, aortitis), but acute limb ischemia in the setting of this illness has been infrequently reported. CASE REPORT We present a rare case of Cogan syndrome complicated by acute vascular ischemia of the left upper extremity. A 50-year-old man presented with symptoms of severe acute pain and weakness of the left arm. The patient endorsed a diagnosis of Cogan syndrome 4 years prior in the setting of unilateral left-sided hearing loss and bilateral uveitis. A physical examination revealed pallor of the left forearm and pulselessness at the wrist. Computed tomography angiography was suggestive of vasculitis and concerns for embolic occlusion of several arterial structures of the left upper limb. After consultation with various specialists, the patient was treated with high-dose steroids, anticoagulants, and topical nitroglycerin and experienced significant clinical improvement. CONCLUSIONS Treatment of Cogan syndrome with severe systemic manifestations depends on the organ involvement and degree of extension. Our patient's presentation serves as an impressive example of systemic vasculitis with subsequent acute ischemia in the setting of this rare autoimmune disorder. In such a case, given the potential for life- or limb-threatening systemic vascular catastrophes, emergent interventions (including imaging, anticoagulation, and specialist involvement) are required to prevent untoward outcomes.

[Atypical Cogan syndrome as a differential diagnosis of sudden sensorineural hearing loss]. / Atypisches Cogan-Syndrom als Differenzialdiagnose eines Hörsturzes.

Cogan I syndrome is a rare disease consisting of vestibulocochlear symptoms and non-syphilitic interstitial keratitis. Although this disease was first described in 1945, its pathogenesis is still unknown. An autoimmune vasculitis etiology is currently discussed. Atypical manifestations are characterized by delayed ocular symptoms or variability of inflammatory eye symptoms. Physical examination often reveals bilateral sensorineural hearing loss. Intratympanic corticosteroid application can be successful.

Acute ischemic stroke in a patient with Cogan's syndrome.

Cogan's syndrome is a rare disorder characterized by inflammatory eye and inner ear/vestibular disease. In some cases patients may present medium and large vessel vasculitis which may produce neurological manifestations. We present the case of a patient who was admitted with clinical manifestations of stroke. After intense study, Cogan's syndrome was diagnosed and treated.

Characteristics and Outcomes of Idiopathic and Non-idiopathic Ocular Motor Apraxia in Children.

PURPOSE: To systematically compare idiopathic and non-idiopathic ocular motor apraxia (OMA) in children. METHODS: A retrospective chart review was conducted of all children (< 18 years) diagnosed as having OMA from 2010 to 2020. Demographics, clinical characteristics, and oculomotor outcomes were compared for children with idiopathic and non-idiopathic OMA. RESULTS: Thirty-seven children were included, 17 (46%) with idiopathic OMA and 20 (54%) with non-idiopathic OMA. Among patients with non-idiopathic OMA, Joubert syndrome was the most frequent underlying diagnosis (30%). Strabismus (45% vs 12%, P = .04), nystagmus (30% vs 0%, P = .02), and vertical saccade involvement (25% vs 0%, P = .049) were significantly more common in non-idiopathic than idiopathic OMA, respectively. Neuroimaging abnormalities (90% vs 18%, P < .0001) and developmental delays (100% vs 59%, P = .002) were also more frequent in non-idiopathic than idiopathic OMA, respectively. Endocrine disorders (most commonly growth hormone deficiency) were diagnosed in 12% and 20% of children with idiopathic and non-idiopathic OMA, respectively (P = .67). On survival curve analysis, improvement in OMA occurred faster and more frequently in children with idiopathic than non-idiopathic OMA (median time to improvement 56 vs 139 months, respectively, P = .034). CONCLUSIONS: Non-idiopathic OMA is associated with a higher rate of vertical saccade involvement, nystagmus, and developmental delays. These findings should prompt neuroimaging in children with OMA. Additionally, endocrine disorders may be more frequent in children with OMA than the general pediatric population. [J Pediatr Ophthalmol Strabismus. 2022;59(5):326-331.].

A rare case of atypical Cogan's syndrome presenting as encephalitis.

Cogan's syndrome (CS) is a rare autoimmune vasculitis of unknown aetiology characterised by non-syphilitic interstitial keratitis, audiovestibular symptoms, sometimes systemic symptoms, and multi-organ involvement. Atypical CS has other ocular features, such as scleritis, episcelritis, retinitis, and optic neuritis. Diagnosis of CS is purely clinical without a confirmatory test. Hereby, we report a case of atypical CS presenting with features of encephalitis who was treated successfully with intravenous pulse methylprednisolone with cyclophosphamide. It is important to consider CS in the differential diagnosis of encephalitis with ocular and vestibular symptoms in young patients, as high morbidity and mortality rates are effectively lowered by early immunosuppressive treatment.