OBJECTIVES: Cogan's syndrome (CS) is a rare variable vessel vasculitis, describing sensorineural hearing loss (SNHL), inflammatory ocular disease, and vestibular dysfunction. We hypothesised that within paediatric-onset (p)CS, a proportion would have monogenic disease, either autoinflammatory and/or associated with SNHL.
✦ The floor
Discussion
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Audiologists managing pediatric patients with unexplained sensorineural hearing loss alongside eye or vestibular symptoms should be aware that genetic testing may uncover monogenic (single-gene) conditions mimicking Cogan's syndrome, potentially altering the diagnostic pathway.
Identifying monogenic mimics of Cogan's syndrome in children could prevent misdiagnosis and lead to earlier, more targeted treatment — underscoring the growing role of genomics in audiology-adjacent rare disease workup.
- 01Whole exome sequencing was applied to pediatric Cogan's syndrome patients to find single-gene mimics.
- 02Cogan's syndrome triad: sensorineural hearing loss, inflammatory eye disease, and vestibular dysfunction.
- 03Genetic mimics of Cogan's syndrome may be misclassified as autoimmune disease without genetic testing.
- 04Published in Rheumatology (Oxford).
- 05Findings could affect diagnostic and treatment decisions for affected children.
Some pediatric patients diagnosed with Cogan's syndrome have monogenic conditions that mimic the disease.
studypartially supportedWhole exome sequencing can identify monogenic mimics in paediatric Cogan's syndrome patients.
studysupported- PMID
- 42640550
- DOI
- 10.1093/rheumatology/keag436.
- Journal
- Rheumatology (Oxford)
- Publication type
- research_article
- Evidence level
- 4
- Population
- Paediatric patients with Cogan's syndrome (sensorineural hearing loss, inflammatory ocular disease, vestibular dysfunction)
- Intervention
- Whole exome sequencing
Primary outcomes
Identification of monogenic mimics of Cogan's syndrome