Severe cryopyrin-associated periodic syndrome first characterized by early childhood-onset sensorineural hearing loss – Case report and literature review
| Autor: | Liane B. Johnson, Rony Greemberg, Lynette S. Penney, Suzanne E. Ramsey, Amaris Hui |
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| Rok vydání: | 2019 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Hearing Loss Sensorineural 03 medical and health sciences 0302 clinical medicine Audiometry AA amyloidosis 030225 pediatrics NLR Family Pyrin Domain-Containing 3 Protein Humans Medicine Child 030223 otorhinolaryngology business.industry Macrocephaly Aseptic meningitis Cryopyrin-associated periodic syndrome General Medicine medicine.disease Rash Cryopyrin-Associated Periodic Syndromes Interleukin 1 Receptor Antagonist Protein Canakinumab Neonatal onset multisystem inflammatory disease Otorhinolaryngology Mutation Pediatrics Perinatology and Child Health Sensorineural hearing loss medicine.symptom business medicine.drug |
| Zdroj: | International Journal of Pediatric Otorhinolaryngology. 120:68-72 |
| ISSN: | 0165-5876 |
| Popis: | Infant-onset bilateral sensorineural hearing loss is a key presenting symptom of the autoinflammatory cryopyrin-associated periodic syndrome. Other symptoms include periodic fever, cold-induced urticaria-like rash, chronic aseptic meningitis, polyarticular arthralgias, and renal AA amyloidosis. Early recognition and treatment with interleukin-1 blockade are critical for preventing disabling or fatal complications. We describe a patient with severe cryopyrin-associated periodic syndrome who presented at age 18 months with macrocephaly and moderate sensorineural hearing loss, later developing systemic sequelae. The pathogenic nature of the de novo NLRP3 gene variant identified was supported by a markedly elevated serum amyloid A level and sustained clinical response to anti-IL-1 therapy. |
| Databáze: | OpenAIRE |
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