Early onset chronic arthritis associated with chromosome deletion 22 q11.2 syndrome. Is it juvenile idiophatic arthritis?
© Nuñez et al; licensee BioMed Central Ltd. 2011
Published: 14 September 2011
The chromosome 22 q11.2 deletion causes CATH 22 syndrome, a multisistemic disease with variable phenotype and a spectrum of clinical disorders: facial malformations, cardiac outflow tract abnormalities, hypocalcemia, immune deficiency,… The chronic arthritis is rare in these children, being published around 17 cases. ItÂ´s characterized to be early-onset (under 6 years), polyarticular moderate-severe outcome and it lacks rheumatoid factor.
Clinical manifestations and laboratory characteristics
Not seen in ultrasound
Ig G/A/M:615/64/60 mgr/dl
Height < p3
Weight < p3
Normal but slow language development
The articular disease is possible in CATCH 22 diagnosed patients, therefore we consider a follow up is needed in order to avoid long-term sequelae. In spite of the increased susceptibility to infection of these children, sometimes immunosuppressive treatment for the arthritis is needed.The use of passive nocturnal orthosis in the inflammatory phase along with a monitored physiotherapy and stimulation program helps to improve the functional abilities.
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