Post-inflammatory retinal dystrophy in CINCA syndrome.
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.
Department of Pediatric Sciences, Center of Periodic Fevers, Università Cattolica Sacro Cuore, Largo A. Gemelli no. 8, 00168 Rome, Italy. drigante@gmail.com
Donato
D
Rigante
Achille
A
Stabile
Angelo
A
Minnella
Laura
L
Avallone
Lucia
L
Ziccardi
Giulia
G
Bersani
Giovanna
G
Stifano
Adele
A
Compagnone
Benedetto
B
Falsini
D018501:Antirheumatic Agents / Q000627:therapeutic use; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D056587:Cryopyrin-Associated Periodic Syndromes / Q000150:complications* / Q000188:drug therapy / Q000503:physiopathology; D018450:Disease Progression; D006801:Humans; D007249:Inflammation / Q000150:complications / Q000188:drug therapy / Q000503:physiopathology; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use; D007375:Interleukin-1 / Q000378:metabolism; D008297:Male; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D017472:Receptors, Interleukin-1 / Q000037:antagonists & inhibitors / Q000378:metabolism; D012160:Retina / Q000276:immunology* / Q000378:metabolism / Q000503:physiopathology; D012164:Retinal Diseases / Q000235:genetics* / Q000276:immunology* / Q000503:physiopathology; D016896:Treatment Outcome
D018501:Antirheumatic Agents; D002352:Carrier Proteins; D053590:Interleukin 1 Receptor Antagonist Protein; D007375:Interleukin-1; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human; D017472:Receptors, Interleukin-1