Abstract
Right chorioretinitis and bilateral pseudopapilledema were firstly appreciated in a 9-month-old child with neonatal findings of aseptic chronic meningitis, framed in the context of CINCA syndrome at 1 year. Therapeutical response to various combinations of drugs was inconsistent until 7 years, when anakinra was started with immediate clinical and laboratory improvement. A state of severe retinal dystrophy of post-inflammatory origin became evident on funduscopy, optical coherence tomography and visual electrophysiology tests at the age of 10 years, which remained stationary after 1 year of anakinra treatment.
MeSH terms
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Antirheumatic Agents / therapeutic use
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Carrier Proteins / genetics
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Child
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Cryopyrin-Associated Periodic Syndromes / complications*
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Cryopyrin-Associated Periodic Syndromes / drug therapy
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Cryopyrin-Associated Periodic Syndromes / physiopathology
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Disease Progression
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Humans
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Inflammation / complications
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Inflammation / drug therapy
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Inflammation / physiopathology
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Interleukin 1 Receptor Antagonist Protein / therapeutic use
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Interleukin-1 / metabolism
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Male
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NLR Family, Pyrin Domain-Containing 3 Protein
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Receptors, Interleukin-1 / antagonists & inhibitors
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Receptors, Interleukin-1 / metabolism
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Retina / immunology*
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Retina / metabolism
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Retina / physiopathology
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Retinal Diseases / genetics*
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Retinal Diseases / immunology*
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Retinal Diseases / physiopathology
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Treatment Outcome
Substances
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Antirheumatic Agents
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Carrier Proteins
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Interleukin 1 Receptor Antagonist Protein
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Interleukin-1
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NLR Family, Pyrin Domain-Containing 3 Protein
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NLRP3 protein, human
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Receptors, Interleukin-1