Successful management of cryopyrin-associated periodic syndrome with canakinumab in infancy.
Pediatrics
; 134(5): e1468-73, 2014 Nov.
Article
em En
| MEDLINE
| ID: mdl-25349319
ABSTRACT
Neonatal onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous and articular (CINCA) syndrome is a rare, early-onset autoinflammatory disorder and the most severe form of cryopyrin-associated periodic syndrome, which is associated with overproduction of interleukin (IL)-1ß. This is a case report of a 70-day-old boy, who was diagnosed with NOMID/CINCA syndrome and who has been treated with anti-IL-1ß monoclonal antibody (canakinumab) since then, despite his early infancy. The patient presented with fever, aseptic meningitis, and rash. The clinical manifestations combined with the elevated acute-phase reactants strengthened the suspicion of the diagnosis of NOMID/CINCA syndrome. Specific immunologic workup revealed high levels of serum amyloid A and IL-6. The clinical diagnosis was confirmed by the detection of a de novo mutation of the CIAS1/NLR3 gene (p.Thr348Met), and canakinumab was started at a dose of 4 mg/kg, higher than the recommended dose for older age. White blood cell, serum amyloid A, C-reactive protein, and IL-6 levels quickly decreased and became normal within a month, and the clinical condition of the patient improved significantly. The infant remains without recurrence of disease or further complications and with satisfactory mental development with anti-IL-1ß monoclonal antibody treatment for >2 years. This report indicates the importance of early diagnosis of NOMID/CINCA syndrome and medication with IL-1 blockers as soon as possible for the improvement of the prognosis of cryopyrin-associated periodic syndrome and of a better patient outcome.
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Base de dados:
MEDLINE
Assunto principal:
Interleucina-1beta
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Síndromes Periódicas Associadas à Criopirina
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Anticorpos Monoclonais
Tipo de estudo:
Observational_studies
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Prognostic_studies
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Risk_factors_studies
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Screening_studies
Limite:
Humans
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Infant
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Male
Idioma:
En
Revista:
Pediatrics
Ano de publicação:
2014
Tipo de documento:
Article