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- Title
A 9-Year-Old Patient with Recurrent Fever, Urticarial Rash and Demyelinating Brain Lesions: NLRP3-Autoinflammatory Disease in Ecuador.
- Authors
Herrera, Cristina N
- Abstract
Autoinflammatory diseases (AIDs) are a relatively new family disorders defined approximately 20 years ago. AIDs are caused by defect(s) or dysregulation of the innate immune system, characterized by recurrent or continuous inflammation and lack of a primary pathogenic role for the adaptive immune system. One AID, NLRP3-associated autoinflammatory disease (NLRP3-AID), involves a clinical presentation since the neonatal period or childhood, with multiple inflammatory recurrent symptoms that appear throughout the patient´s life. We present the first case of NLRP3-AID in Ecuador. The patient presented recurrent fever since 6 months of age associated with urticarial rash, arthralgias, and abdominal pain; recently, he had a seizure at 7 years of age. Brain MRI revealed demyelinating lesions, and genetic testing uncovered a de novo mutation in the NLRP3 gene. The patient had a good clinical response to treatment with canakinumab.
- Subjects
BRAIN damage; FEVER; AUTOINFLAMMATORY diseases; SYMPTOMS; ABDOMINAL pain; EPILEPSY
- Publication
Open Access Rheumatology: Research & Reviews, 2022, Vol 14, p1
- ISSN
1179-156X
- Publication type
Case Study
- DOI
10.2147/OARRR.S333562