[Significant effect of IL-1 receptor antagonist treatment in two patients who had CINCA syndrome with constant symptoms for 13 years].
We report two cases of chronic infantile neurological, cutaneous, and articular (CINCA) syndrome. It is a rare congenital multisystemic inflammatory disease characterised by early onset of urticarial skin rash, central nervous system involvement and articular signs. Our two cases were first diagnosed at 13 and 14 years of age, respectively. From birth they presented with typical symptoms of CINCA syndrome, however isolated each symptom was non-specific. After the syndrome was recognised and treatment with anakinra was initiated, most symptoms disappeared.
De Pædiatriske Klinikker, GGK, Rigshospitalet, Blegdamsvej 9, 2100 København Ø, Denmark. lars.idorn@rh.regionh.dk
Lars
L
Idorn
Nadja Hawwa
NH
Vissing
Lise
L
Jensen
Troels
T
Herlin
D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics*; D056587:Cryopyrin-Associated Periodic Syndromes / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D006801:Humans; D053590:Interleukin 1 Receptor Antagonist Protein / Q000627:therapeutic use*; D008297:Male; D009154:Mutation; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; D014581:Urticaria / Q000473:pathology
D002352:Carrier Proteins; D053590:Interleukin 1 Receptor Antagonist Protein; D000071199:NLR Family, Pyrin Domain-Containing 3 Protein; C453881:NLRP3 protein, human