A Síndrome de Cogan (SC) é uma doença autoimune rara, de causa desconhecida. Ela se caracteriza por uma inflamação nos olhos (principalmente na córnea, chamada ceratite intersticial) e por problemas no ouvido e no equilíbrio, como perda súbita da audição, zumbido e tontura intensa (vertigem). Isso ocorre quando os exames para sífilis dão negativo. A doença tem um risco variável de se espalhar e afetar outros órgãos do corpo (se tornar uma doença sistêmica). Sintomas que afetam o corpo todo podem surgir em mais de 70% dos casos.
Introdução
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A Síndrome de Cogan (SC) é uma doença autoimune rara, de causa desconhecida. Ela se caracteriza por uma inflamação nos olhos (principalmente na córnea, chamada ceratite intersticial) e por problemas no ouvido e no equilíbrio, como perda súbita da audição, zumbido e tontura intensa (vertigem). Isso ocorre quando os exames para sífilis dão negativo. A doença tem um risco variável de se espalhar e afetar outros órgãos do corpo (se tornar uma doença sistêmica). Sintomas que afetam o corpo todo podem surgir em mais de 70% dos casos.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 8 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 20 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Nenhum gene associado encontrado
Os dados genéticos desta condição ainda estão sendo catalogados.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Cogan
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Publicações mais relevantes
Meesmann Corneal Dystrophy with Epithelial Basement Membrane Abnormalities: Clinical and Genetic Analysis of Two Families with Novel and Known Mutations in KRT3 and KRT12.
This study describes the clinical and genetic features of Meesmann epithelial corneal dystrophy (MECD) in two unrelated families and reports new genotype-phenotype associations. Ten patients from a Lebanese family (n = 4) (Family 1) and a Spanish family (n = 6) (Family 2) underwent ophthalmologic evaluation, in vivo confocal microscopy (IVCM), anterior segment optical coherence tomography (AS-OCT) with epithelial thickness mapping (ET-map), and targeted next-generation sequencing (NGS) using a custom-designed 133-gene panel associated with anterior segment dystrophies. In Family 1, a novel homozygous KRT12 c.1181T>C (p.Leu394Pro) variant was identified in the symptomatic proband and his clinically asymptomatic brother, while both parents, who were first cousins, were heterozygous for this nucleotide variant. The proband also carried the heterozygous KRT3 c.250C>T (p.Arg84Trp) variant, which has been previously reported but, to our knowledge, has not been described in co-occurrence until now. In addition, the proband showed a complex phenotype with signs of MECD and epithelial basal membrane alterations consistent with epithelial basement membrane dystrophy (EBMD). In Family 2, four affected members carried the KRT3 c.1492G>A (p.Glu498Lys) variant in heterozygosity, which has been previously described. The elderly members affected showed typical signs of MECD and EBMD. To our knowledge, these concomitant alterations have not been previously described with genetical confirmation. In conclusion, this study provides the first evidence that the co-occurrence of variants in two Meesmann corneal dystrophy-associated genes (KRT3 and KRT12) can jointly account for the disease phenotype. We also highlight the association of MECD with EBMD in both families. Characterization using IVCM and AS-OCT ET-Map provides a deeper understanding of the morphological changes and phenotypic variability in MECD, confirming the utility of this multimodal imaging approach for diagnosis and management. Cogan syndrome is a rare systemic vasculitis characterized by inflammation of the inner ear and eyes. Baumgartner and Morgan first described the condition in 1934 as non–syphilitic interstitial keratitis associated with vestibular dysfunction in a patient with Ménière disease. Dr David G. Cogan later defined it as a distinct clinical entity in 1947. The diagnosis of Cogan syndrome is one of exclusion. This condition typically affects young adults in their second or third decade of life. The proposed pathogenesis involves autoantibodies directed against antigens in the cornea, inner ear, and vascular endothelium. Cogan syndrome is classified into typical and atypical forms. Typical Cogan syndrome is defined by the onset of ophthalmologic and audiovestibular symptoms within 2 years of each other, usually within 3 to 90 days. Atypical Cogan syndrome is diagnosed when this interval exceeds 2 years. Systemic manifestations may include fever, arthralgias, myalgias, arthritis, headache, and aortitis. Cogan syndrome is generally managed with corticosteroids to reduce the frequency and severity of flares and prevent irreversible complications such as sensorineural hearing loss, vestibular dysfunction, blindness, and cardiovascular involvement. Progressive or refractory cases may require biologic or immunomodulatory therapy, and severe cases may need surgical intervention.
Analysis of corneal wavefront aberrations and corneal densitometry in eyes with epithelial basement membrane dystrophy.
To investigate wavefront aberrations, as well as corneal optical densitometry (COD), in eyes with epithelial basement membrane dystrophy (EBMD) and the influence on visual acuity. In this cross-sectional study, 70 eyes of 70 patients (mean age 55.9 ± 14.0 years) with the central cornea involving EBMD were compared to 50 healthy eyes of 50 patients (mean age 58.8 ± 14.1 years) serving as controls. Wavefront aberrations of the anterior corneal surface and the total cornea were measured with the Pentacam AXL (Oculus Optikgeräte GmbH, Wetzlar, Germany), and calculated for the 6 mm central corneal zone. In addition, the COD (corneal light backscatter measured in grey scale units) of the anterior 120 µm of the central 0-2 mm, 2-6 mm, and 6-10 mm of the cornea was evaluated. Corrected distance visual acuity (CDVA) was correlated with wavefront aberrations and COD using Spearman correlation analysis. EBMD resulted in significant higher peak-to-valley (PTV; median: 15.0 [interquartile range: 9] µm), square root of the sum of the squared higher-order aberrations (RMS-HOA; 0.77 [0.52] µm), astigmatism (1.06 [1.04] µm), coma (0.41 [0.44] µm), and trefoil (0.28 [0.40] µm) (all p ≤ 0.01). A moderate correlation was found especially between CDVA and PTV as well as RMS-HOA. EBMD led to a statistically significant higher COD (p < 0.01) in the central corneal 6-mm and correlated moderately with CDVA outcomes. Our study revealed a significant correlation between elevated wavefront aberrations and backscattering in eyes affected by epithelial basement membrane dystrophy. While COD demonstrates potential for diagnostic purposes, additional studies are necessary to ascertain its specificity and distinguish EBMD from other ocular surface disorders.
Atypical Cogan's syndrome with delayed auditory and ocular manifestations.
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.
Cogan Syndrome in a Patient With Melanoma Treated With Targeted Chemotherapy.
Epidemiology, Clinical Data, and Management of Aseptic Abscess Syndrome: Review of Published Cases Outside France.
Aseptic abscess syndrome is a clinical entity that is being increasingly documented. Unfortunately, apart from the French registry, there are no other studies presenting collective data. In this review, we sought to analyze clinical and laboratory data from case reports published from the rest of the world. A total of 107 articles were found through our literature search in PubMed, Scopus, and Google, which contained 108 patients who met our eligibility criteria, including pediatric cases. The mean age at diagnosis was 39.1 years, and 54.6% of the patients were female. Cases were found affecting almost every organ, but the most common abscess locations were the spleen (51.9%), liver (35.2%), and lung (23.1%); 34.3% of the patients had multiorgan disease at diagnosis. An inflammatory syndrome was evident, with fever (79.6%), pain (66.7%), median white blood cell count of 16,200/μL, median C-reactive protein level of 15.5 mg/dL, and mean erythrocyte sedimentation rate of 79 mm/h. In total, 88.9% had an associated disease, with the most frequent being neutrophilic dermatosis (43.5%) and inflammatory bowel disease (31.5%); associated disease was inactive during abscess diagnosis in approximately one-quarter of patients. Moreover, 93.5% received corticosteroids with or without other agents, while 21.3% underwent excision surgery, which led to relapse if immunosuppressants were not concomitantly administered. No deaths were reported due to the syndrome, but 42.4% of cases that provided relevant data relapsed despite the relatively short follow-up period (median 1 year), either in the same or different organs. Combined immunomodulatory treatment, based on subgroup analysis, appeared protective against relapse in females and patients with splenic abscess or C-reactive protein >12 mg/dL (odds ratio 0.16 [95% CI 0.04-0.59]/p = 0.004, 0.09 [95% CI 0.01-0.62]/p = 0.008 and 0.23 [95% CI 0.06-0.92]/p = 0.03, respectively). Infection should always be the working diagnosis in patients with abscesses. However, if the infectious workup is negative, antimicrobials have failed, and no sepsis is present, then aseptic abscess syndrome should be considered; response to high-dose corticosteroids is a therapeutic criterion in almost all cases.
Publicações recentes
Unexpected Death in a Young Child With Cogan Syndrome.
Atypical Cogan's syndrome with delayed auditory and ocular manifestations.
Epidemiology, Clinical Data, and Management of Aseptic Abscess Syndrome: Review of Published Cases Outside France.
Was an aortic valve replacement with a mechanical valve the right option all along? Cogan's syndrome with recurrent aortic regurgitation: a case of evolving surgical decisions.
📚 EuropePMC102 artigos no totalmostrando 196
Meesmann Corneal Dystrophy with Epithelial Basement Membrane Abnormalities: Clinical and Genetic Analysis of Two Families with Novel and Known Mutations in KRT3 and KRT12.
International journal of molecular sciencesAnalysis of corneal wavefront aberrations and corneal densitometry in eyes with epithelial basement membrane dystrophy.
International ophthalmologyAtypical Cogan's syndrome with delayed auditory and ocular manifestations.
BMJ case reportsEpidemiology, Clinical Data, and Management of Aseptic Abscess Syndrome: Review of Published Cases Outside France.
Epidemiologia (Basel, Switzerland)Was an aortic valve replacement with a mechanical valve the right option all along? Cogan's syndrome with recurrent aortic regurgitation: a case of evolving surgical decisions.
Oxford medical case reportsOverlap Syndrome of Cogan's and Tubulointerstitial Nephritis and Uveitis (TINU) in a Case with Uveitis, Hearing Loss, and Kidney Involvement.
Ocular immunology and inflammationBálint Syndrome From Posterior Cerebral Artery Infarctions Case Report.
Clinical neuropharmacologyApproach to Oculomotor Apraxia: A Syndromic Approach to Genetic Causes.
Cerebellum (London, England)Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2.
Molecular medicine (Cambridge, Mass.)Cogan's syndrome. A comprehensive review.
European journal of internal medicine[Challenges of differential diagnosis in the verification of Behçet's disease with neurological manifestations].
Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova[COGAN SYNDROME - CASE PRESENTATION WITH PROGRESSIVE OCULAR INVOLVEMENT].
HarefuahA rare case of aggressive pyoderma gangrenosum with Cogan syndrome in a person with skin of colour.
Skin health and diseaseManaging Complex Coronary Revascularization of Acute Coronary Syndrome During Cogan Syndrome.
JACC. Case reportsBeyond Eyes and Ears: Inflammation Provoking Infarction in Cogan Syndrome.
JACC. Case reportsThe Role of 18 F-FDG PET/CT Combined With MPI in Cogan's Syndrome With Multiple Arteritis and Coronary Involvement: A Case Report.
Clinical nuclear medicineCase Report: Atypical post-COVID Cogan's syndrome.
F1000ResearchClinical significance of endolymphatic hydrops on MRI in Cogan's syndrome: a case series of five patients.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryCogan Syndrome in a Patient With Melanoma Treated With Targeted Chemotherapy.
Journal of clinical neurology (Seoul, Korea)Multidisciplinary unravelling Cogan's syndrome post-C-section: insights into diagnosis, treatment and a possible identified new trigger.
BMJ case reportsFirst Reported Case of atypical Cogan's Syndrome in Central America.
Archivos de la Sociedad Espanola de OftalmologiaAtypical Cogan syndrome: a case report.
Journal of medical case reportsFrench protocol for diagnosis and management of Cogan's syndrome.
La Revue de medecine interneRare primary vasculitis: update on multiple complex diseases and the new kids on the block.
Advances in rheumatology (London, England)A Case of Bilateral Retinal Vasculitis in Atypical Cogan Syndrome.
CureusDevelopmental, Cognitive, Ocular Motor, and Neuroimaging Findings Related to SUFU Haploinsufficiency: Unraveling Subtle and Highly Variable Phenotypes.
Pediatric neurologyAudiovestibular outcomes in adult patients with cogan syndrome: a systematic review.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryAnterior STEMI in a 25-year-old with Cogan syndrome.
Journal of cardiology casesTemporal Bone Histopathology of Atypical Cogan Syndrome.
The LaryngoscopeCogan-Like Syndrome Following Nivolumab Immunotherapy for Metastatic Cutaneous Melanoma.
Ocular immunology and inflammationDiscontinuation of infliximab leading to auditory loss in a patient with Cogan syndrome: A case report.
Joint bone spineExploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis.
Movement disorders clinical practiceMulti-Modality Imaging in Vasculitis.
Diagnostics (Basel, Switzerland)Neuro-ophthalmic challenges and multi-morbidity in vasculitis among the older adults.
Expert review of clinical immunologyHeterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report.
Parkinsonism & related disordersPotential causal association between leisure sedentary behaviors and osteoporosis: A two-sample Mendelian randomization analysis.
MedicineA pediatric case of Cogan's syndrome with tubulointerstitial nephritis and vasculitis: lessons for the clinical nephrologist.
Journal of nephrologyTocilizumab Successfully Treating Refractory Hearing Impairment in a Patient With Cogan Syndrome: A Case Report and Review of the Literature.
Ear, nose, & throat journalClinical outcomes of epithelial basement membrane dystrophy after keratorefractive lenticule extraction.
Journal of cataract and refractive surgeryAtypical Cogan's syndrome: A case report.
Journal francais d'ophtalmologie[Behçet's and Cogan's syndromes - The Variable Vessel Vasculitides].
Laryngo- rhino- otologiePaediatric Cogan Syndrome masquerading as IgA vasculitis.
Modern rheumatology case reportsThe atypical sphingolipid SPB 18:1(14Z);O2 is a biomarker for DEGS1 related hypomyelinating leukodystrophy.
Journal of lipid researchCogan syndrome: a case report and review of the literature.
Digital journal of ophthalmology : DJOThe causal effect of schizophrenia on fractures and bone mineral density: a comprehensive two-sample Mendelian randomization study of European ancestry.
BMC psychiatryCogan Syndrome: A Case Study and Review of the Literature.
Ear, nose, & throat journalSpeech reception after cochlear implantation for Cogan's syndrome: Case series following CARE guidelines.
European annals of otorhinolaryngology, head and neck diseasesTarget temperature in post-arrest comatous patients. Is something changed in the postpandemic era?
The American journal of emergency medicinePaediatric Cogan´s syndrome - review of literature, case report and practical approach to diagnosis and management.
Pediatric rheumatology online journalCogan syndrome following SARS-COV-2 infection.
Clinical rheumatologyTeaching Video NeuroImage: Oculomotor Apraxia as the Only Presentation of Diffuse Intrinsic Pontine Glioma.
NeurologyCogan's syndrome is more than just keratitis: a case-based literature review.
BMC ophthalmologyThe genetic spectrum of congenital ocular motor apraxia type Cogan: an observational study, continued.
Orphanet journal of rare diseases[Epithelial basement membrane corneal dystrophy: A case report].
Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de CitologiaAtypical Cogan's Syndrome with Large-vessel Vasculitis Successfully Treated with Tocilizumab.
Internal medicine (Tokyo, Japan)Cogan syndrome: A challenging diagnosis.
Journal francais d'ophtalmologiePartial Balint's syndrome and left homonymous hemianopsia presenting after resection of a right occipito-parietal glioblastoma.
NeurocaseAnterior Segment Swept Source Optical Coherence Tomography and In Vivo Confocal Microscopy Findings in a Case With Bleb-Like Epithelial Basal Membrane Dystrophy.
CorneaPersistence of Infantile-Onset Saccade Initiation Delay (Congenital Ocular Motor Apraxia): An Update on a Young Adult.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesIntrathecal injection of methotrexate combined with dexamethasone for Cogan's syndrome with neurological involvement: A case report and literature review.
International journal of rheumatic diseasesPhenotypic spectrum of patients with Poretti-Boltshauser syndrome: Patient report of antenatal ventriculomegaly and esophageal atresia.
European journal of medical geneticsReport of 2 pediatric cases with atypical Cogan's syndrome and a systematic review.
International journal of rheumatic diseases[Clinical and morphological characteristics of corneal epithelial dystrophy (clinical observations)].
Vestnik oftalmologii[Non-infectious diseases of the aorta and large arteries].
Terapevticheskii arkhiv[Vertigo and ocular inflammation: Cogan syndrome].
Nederlands tijdschrift voor geneeskundePosterior Scleritis: A Unique Sequela of Cogan Syndrome.
Rhode Island medical journal (2013)Snakebite envenomation-induced posterior reversible encephalopathy syndrome presenting with Bálint syndrome.
NeurologiaBowman Layer Onlay Graft for Recurrent Corneal Erosions in Map-Dot-Fingerprint Dystrophy.
CorneaRETINAL CHANGES IN PORETTI-BOLTSHAUSER SYNDROME: RETINA AS A WINDOW TO THE BRAIN.
Retinal cases & brief reportsHigh myopia and vitreal veils in a patient with Poretti- Boltshauser syndrome due to a novel homozygous LAMA1 mutation.
Ophthalmic geneticsAcute Limb Ischemia in Cogan Syndrome.
The American journal of case reportsClinical and Genetic Characterization of Brazilian Patients with Ataxia and Oculomotor Apraxia.
Movement disorders : official journal of the Movement Disorder Society[Atypical Cogan syndrome as a differential diagnosis of sudden sensorineural hearing loss].
HNOAutoimmune Vestibulopathy-A Case Series.
Brain sciences[Phototherapeutic keratectomy for epithelial basement membrane dystrophy : Impact of excimer laser systems used on the changes of visual acuity, refraction and astigmatism].
Die OphthalmologieNPTX1-related oculomotor apraxia: an intra-hemispheric disconnection disorder.
Journal of neurologyPhototherapeutic keratectomy versus epithelial debridement combined with anterior stromal puncture or diamond burr for recurrent corneal erosions.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieCharacteristics and Outcomes of Idiopathic and Non-idiopathic Ocular Motor Apraxia in Children.
Journal of pediatric ophthalmology and strabismusAcute ischemic stroke in a patient with Cogan's syndrome.
Journal of integrative neuroscienceCase 4-2022: A 55-Year-Old Man with Bilateral Hearing Loss and Eye Redness.
The New England journal of medicineA rare case of atypical Cogan's syndrome presenting as encephalitis.
Modern rheumatology case reportsDelayed Diagnosis of Childhood-Onset Huntington Disease in an 8-Year-Old Boy With Ocular Motor Apraxia.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyA case report of a severe form of cogan syndrome.
Annals of medicine and surgery (2012)Cogan Syndrome with Aortic Regurgitation and Multiple Vasculopathy.
Internal medicine (Tokyo, Japan)A Case of Atypical Cogan's Syndrome Associated with Reversible Cerebral Vasoconstriction Syndrome.
Neurology IndiaCogan syndrome masquerading as corneal ectasia.
American journal of ophthalmology case reportsAtypical Cogan's Syndrome Mimicking Giant Cell Arteritis Successfully Treated with Early Administration of Tocilizumab.
Internal medicine (Tokyo, Japan)Selected Otologic Disorders Causing Dizziness.
Continuum (Minneapolis, Minn.)Combination Cataract Extraction, Goniotomy, Ahmed Valve and Retrobulbar tube in a patient with bilateral Uveitic Glaucoma and Cogan's Syndrome.
Journal of the National Medical AssociationBalint's syndrome revealing Creutzfeldt-Jakob disease.
Revue neurologiqueSpectrum and Outcome of Noninfectious Aortitis.
The Journal of rheumatologyA Case of Balint Syndrome Due to Left Basal Ganglia Hemorrhagic Stroke: Exploring the Pathogenesis Through Parietal Lobe Circuits.
The primary care companion for CNS disordersIntegrating visual search, eye movement training and reversing prism exposure in the treatment of Balint-Holmes syndrome: a single case report.
Topics in stroke rehabilitationAtaxia with oculomotor apraxia type 2 (AOA2): an eye movement study of two siblings.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyCase Report: Effective and Safe Treatment With Certolizumab Pegol in Pregnant Patients With Cogan's Syndrome: A Report of Three Pregnancies in Two Patients.
Frontiers in immunologyCogan syndrome: An autoimmune eye and ear disease with systemic manifestations.
The National medical journal of IndiaPoretti-Boltshauser syndrome: a rare differential diagnosis to consider in pediatric high myopia with retinal degeneration.
Ophthalmic geneticsAssessment of corneal epithelial thickness mapping in epithelial basement membrane dystrophy.
PloS oneClinical and Histological Characterization of Toxic Keratopathy From Depatuxizumab Mafodotin (ABT-414), an Antibody-Drug Conjugate.
CorneaAsymmetric Bálint's syndrome with multimodal agnosia, bilateral agraphesthesia, and ineffective kinesthetic reading due to subcortical hemorrhage in the left parieto-occipito-temporal area.
NeurocaseSuccessful treatment of Cogan's syndrome with tocilizumab.
Scandinavian journal of rheumatologyAutosomal Recessive Cerebellar Ataxias With Elevated Alpha-Fetoprotein: Uncommon Diseases, Common Biomarker.
Movement disorders : official journal of the Movement Disorder SocietyHeterozygous truncating variants in SUFU cause congenital ocular motor apraxia.
Genetics in medicine : official journal of the American College of Medical GeneticsCogan Reese Syndrome, a Unilateral Puzzling Cause of Secondary Glaucoma.
Ophthalmology. Glaucoma[Syncope, pain in the large joints, and painful swelling of the right eye in a 51-year-old patient : Pitfalls in the diagnosis and treatment of a rare disease].
Der InternistAtypical Cogan Syndrome Featuring Orbital Myositis and Dacryoadenitis.
Ophthalmic plastic and reconstructive surgeryTeaching Video NeuroImages: Posterior Cortical Atrophy Presenting With Balint Syndrome.
NeurologyAseptic Liver Abscesses as an Exceptional Finding in Cogan's Syndrome.
Hepatology (Baltimore, Md.)Neck pain, red eyes and hearing loss.
Rheumatology (Oxford, England)Cogan syndrome: Descriptive analysis and clinical experience of 7 cases diagnosed and treated in two third level hospitals.
Reumatologia clinicaCogan's Syndrome: Clinical Presentations and Update on Treatment.
Current allergy and asthma reportsFamilial HLA-B*52 Vasculitis: Maternal, Atypical Cogan's Syndrome with Takayasu Arteritis-mimicking Aortitis and Filial Takayasu Arteritis.
Internal medicine (Tokyo, Japan)OCULAR MANIFESTATIONS OF PORETTI-BOLTSHAUSER SYNDROME: FINDINGS FROM MULTIMODAL IMAGING AND ELECTROPHYSIOLOGY.
Retinal cases & brief reportsClinical Presentation of Ataxia-Telangiectasia.
Archives of Iranian medicineOff-label application of intravenous immunoglobulin (IVIG) for treatment of Cogan's syndrome during pregnancy.
BMJ case reports[Screening for ocular involvement in deaf children].
The Pan African medical journalTeaching Video NeuroImages: Characteristic head jerks in congenital oculomotor apraxia due to Joubert syndrome.
NeurologyDual corneal involvement by endothelial and epithelial corneal dystrophies in Steinert's disease: A case of triple dystrophy.
European journal of ophthalmologyNail Lichen Planus in a Patient with Cogan Syndrome: Report of a Case and Discussion.
Case reports in dermatologyHepatic vasculitis mimicking multiple liver abscesses in Cogan's Syndrome.
Acta reumatologica portuguesaPearls & Oy-sters: Cogan syndrome: A potentially grave disorder of audiovestibulopathy with many faces.
NeurologyAortic valve perforation in the setting of Cogan's syndrome.
Echocardiography (Mount Kisco, N.Y.)Efficacy of a Topical Heparan Sulfate Mimetic Polymer on Ocular Surface Discomfort in Patients with Cogan's Epithelial Basement Membrane Dystrophy.
Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and TherapeuticsCombination of olfactory aplasia and congenital ocular motor apraxia: a previously unreported association.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyInterstitial keratitis diagnosis and treatment.
Journal francais d'ophtalmologieCogan's syndrome: new therapeutic approaches in the biological era.
Expert opinion on biological therapy[Cogan syndrome with audiovestibular disfunction: 2 cases report].
Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgeryA CARE-compliant article: optical coherence tomography for epithelial basement membrane dystrophy: A case report.
MedicineRefractive surprise after routine cataract surgery with multifocal IOLs attributable to corneal epithelial basement membrane dystrophy.
Journal of cataract and refractive surgeryImmune-mediated conditions affecting the brain, eye and ear (BEE syndromes).
Journal of neurology, neurosurgery, and psychiatryTrauma-induced exacerbation of epithelial-stromal TGFBI lattice corneal dystrophy.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieModalities of reading acquisition in three siblings with infantile-onset saccade initiation delay (Cogan congenital ocular motor apraxia): A longitudinal study.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyGerm cell arrest associated with aSETX mutation in ataxia oculomotor apraxia type 2.
Reproductive biomedicine onlineA new MRI marker of ataxia with oculomotor apraxia.
European journal of radiology[Beethoven and Cogan syndrome].
Revista medica de ChileAn unusual case of post-cochlear implant performance degradation in a patient with suspected Cogan's syndrome.
Cochlear implants internationalThe utility of a normal tear osmolarity test in patients presenting with dry eye disease like symptoms: A prospective analysis.
Contact lens & anterior eye : the journal of the British Contact Lens AssociationCutaneous Vasculitis in Cogan's Syndrome: A Report of Two Cases Associated with Chlamydia Infection.
Journal of Nippon Medical School = Nippon Ika Daigaku zasshiArt is long, life is short. Francisco José de Goya y Lucientes (1746-1828), the suffering artist.
Medical hypothesesCogan's syndrome with pyoderma gangrenosum: management of two uncommon disorders with aggressive presentation in a patient.
BMJ case reports[Recurrent Corneal Erosions in Epithelial Corneal Dystrophies].
Klinische Monatsblatter fur AugenheilkundeFever of unknown origin: a challenging case.
BMJ case reportsAutoimmune Inner Ear Disease: Immune Biomarkers, Audiovestibular Aspects, and Therapeutic Modalities of Cogan's Syndrome.
Journal of immunology researchFever of unknown origin, bilateral sensorineural hearing loss with canal paresis and uveitis with iridocyclitis and episcleritis: a case of Cogan's syndrome.
BMJ case reportsOculomotor apraxia and disrupted sleep with nocturnal ballistic bouts in ADCY5-related disease.
Parkinsonism & related disordersPearls & Oy-sters: Ocular motor apraxia as essential differential diagnosis to supranuclear gaze palsy: Eyes up.
NeurologyRare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma.
Clinical geneticsInterstitial Keratitis in Cogan's Syndrome.
The New England journal of medicineCogan's syndrome - A rare aortitis, difficult to diagnose but with therapeutic potential.
Revista da Associacao Medica Brasileira (1992)Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.
JAMA neurologyCogan's Syndrome and Spondyloarthritis: Case Report.
Reumatologia clinicaTwo patients with PNKP mutations presenting with microcephaly, seizure, and oculomotor apraxia.
Clinical geneticsAsymmetric oculomotor apraxia, optic ataxia, and simultanagnosia with right hemispatial neglect from a predominantly left-sided lesion of the parieto-occipital area.
Cognitive neuropsychiatryRetinal Avascularity and Neovascularization Associated With LAMA1 (laminin1) Mutation in Poretti-Boltshauser Syndrome.
JAMA ophthalmologyComparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein.
Scientific reportsCogan syndrome: Characteristics, outcome and treatment in a French nationwide retrospective study and literature review.
Autoimmunity reviewsAn unusual presentation of Roth spots in Cogan's syndrome.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieOcular Dysfunctions Presenting in Tacrolimus-Induced Posterior Reversible Encephalopathy Syndrome: A Case Presentation.
PM & R : the journal of injury, function, and rehabilitationCT Features of Vasculitides Based on the 2012 International Chapel Hill Consensus Conference Revised Classification.
Korean journal of radiologyHistopathology of the Human Inner Ear in the Cogan Syndrome with Cochlear Implantation.
Audiology & neuro-otologyAn elusive ciliopathy: Joubert syndrome.
BMJ case reportsLate-onset Cogan's syndrome associated with large-vessel vasculitis.
Reumatologia clinicaSuccessful Pregnancy in a Patient with Atypical Cogan's Syndrome.
The Israel Medical Association journal : IMAJSystemic Lupus Erythematosus and hearing disorders: Literature review and meta-analysis of clinical and temporal bone findings.
The Journal of international medical researchA unique case of keratoconus with Cogan-Reese syndrome and secondary glaucoma.
Indian journal of ophthalmologyCogan's syndrome: State of the art of systemic immunosuppressive treatment in adult and pediatric patients.
Autoimmunity reviewsAtypical Ulcerated Lesions in a Patient With Cogan Syndrome.
Actas dermo-sifiliograficasVisual and cross-modal cues increase the identification of overlapping visual stimuli in Balint's syndrome.
Journal of clinical and experimental neuropsychologyXRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxia.
NatureCongenital heart block and immune mediated sensorineural hearing loss: possible cross reactivity of immune response.
LupusBilateral injury of the superior longitudinal fasciculus in a patient with Balint syndrome.
NeurologyNosological delineation of congenital ocular motor apraxia type Cogan: an observational study.
Orphanet journal of rare diseasesCogan syndrome with severe medium and large vessel vasculitis.
Digital journal of ophthalmology : DJOBrothers with ocular motor apraxia, juvenile nephronophthisis, and mild cerebellar defects.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie[Unilateral photophobia as initial symptom of severe systemic disease].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen GesellschaftPNKP Mutations Identified by Whole-Exome Sequencing in a Norwegian Patient with Sporadic Ataxia and Edema.
Cerebellum (London, England)Oculomotor apraxia and dilated cardiomyopathy with ataxia syndrome: A case report.
Ophthalmic genetics[Cogan syndrome – when several of our senses are affected].
LakartidningenCogan's syndrome and treatment-resistant psychosis.
The Australian and New Zealand journal of psychiatry[Epithelial basement membrane dystrophy in a patient with keratoconus].
Journal francais d'ophtalmologieSurgical Treatment in a Case of Cogan's Syndrome Complicated With Proximal Aortic Vasculitis.
The Annals of thoracic surgerySEROUS NEUROSENSORY RETINAL DETACHMENT ASSOCIATED WITH ATYPICAL COGAN SYNDROME: A CASE REPORT.
Retinal cases & brief reportsAcute Bilateral Pulmonary Opacities Associated With Use of Tocilizumab.
Journal of clinical rheumatology : practical reports on rheumatic & musculoskeletal diseases[Complete remission under azathioprine in a corticoresistant case of Cogan's syndrome].
Presse medicale (Paris, France : 1983)Lamotrigine-induced tubulointerstitial nephritis and uveitis-atypical Cogan syndrome.
European journal of ophthalmologyDiagnosing Beethoven: A New Take on an Old Patient.
The American journal of medicineHistopathology of the Inner Ear in a Case With Recent Onset of Cogan's Syndrome: Evidence for Vasculitis.
The Annals of otology, rhinology, and laryngologyCogan's Syndrome in Patients With Inflammatory Bowel Disease--A Case Series.
Journal of Crohn's & colitis[Description of the case of Cogan syndrome].
Wiadomosci lekarskie (Warsaw, Poland : 1960)Mutational analysis of SYNJ1 gene (PARK20) in Parkinson's disease in a Taiwanese population.
Neurobiology of agingConsensus statement on surgical pathology of the aorta from the Society for Cardiovascular Pathology and the Association for European Cardiovascular Pathology: I. Inflammatory diseases.
Cardiovascular pathology : the official journal of the Society for Cardiovascular PathologyCogan's syndrome and other ocular vasculitides.
Current rheumatology reportsPitfalls in ataxia with ocular motor apraxia type 1: pseudodominant inheritance and very late onset.
Journal of neurologySudden hearing loss and Crohn disease: when Cogan syndrome must be suspected.
American journal of otolaryngologyAtaxia with oculomotor apraxia type 2: not always an easy diagnosis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyInfantile-onset saccade initiation delay (congenital ocular motor apraxia).
Current neurology and neuroscience reportsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome Cogan.
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Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Meesmann Corneal Dystrophy with Epithelial Basement Membrane Abnormalities: Clinical and Genetic Analysis of Two Families with Novel and Known Mutations in KRT3 and KRT12.
- Analysis of corneal wavefront aberrations and corneal densitometry in eyes with epithelial basement membrane dystrophy.
- Atypical Cogan's syndrome with delayed auditory and ocular manifestations.
- Cogan Syndrome in a Patient With Melanoma Treated With Targeted Chemotherapy.
- Epidemiology, Clinical Data, and Management of Aseptic Abscess Syndrome: Review of Published Cases Outside France.
- Unexpected Death in a Young Child With Cogan Syndrome.
- Cogan Syndrome.
- Was an aortic valve replacement with a mechanical valve the right option all along? Cogan's syndrome with recurrent aortic regurgitation: a case of evolving surgical decisions.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1467(Orphanet)
- MONDO:0015453(MONDO)
- GARD:1421(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q1106923(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
