Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood.

OBJECTIVE: To report on the ocular manifestations of the Chronic Infantile Neurological Cutaneous and Articular/Neonatal Onset Multisystem Inflammatory Disease (CINCA/NOMID) syndrome, a rare, recently identified, pediatric multisystem inflammatory disease with chronic cutaneous, neurological, and articular manifestations. DESIGN: Descriptive case-report study. SETTING: International collaborative study based on a questionnaire. RESULTS: We included 31 patients. The mean age at onset of eye manifestations was 4.5 years. Optic disc changes were the most common feature, occurring in 26 patients (83%), including optic disc edema, pseudopapilledema, and optic atrophy. Anterior segment manifestations varying from mild to severe were seen in 13 patients (42%); chronic anterior uveitis, in 17 patients (55%). Moderate to severe visual acuity loss in at least 1 eye was seen in 8 patients (26%) as a consequence of the disease. Posterior synechia, glaucoma, and white iritis were not observed in any patient. CONCLUSION: Ocular manifestations with potentially sight-threatening complications occur commonly in the CINCA/NOMID syndrome. The distinctive nature of these complications may assist the ophthalmologist in recognizing this rare disorder and distinguishing it from juvenile rheumatoid arthritis.

Abnormalities of immunoregulation in juvenile rheumatoid arthritis.

Immunoregulatory imbalances are thought to be involved in the pathogenesis of juvenile rheumatoid arthritis (JRA). We have found that a subset of patients with JRA demonstrate a marked expansion of B cells without an alteration in B cell subset distribution. However, there was actually decreased in vitro immunoglobulin production in response to stimulation with either pokeweed mitogen or hydrocortisone. These B cell abnormalities were found to correlate with a marked increase in the percentage of CD4 + CD45R + T cells, a T cell subset thought to be responsible for inducing suppression. In addition, there was a significant decrease in the percentage of CD4 + CD29 + T cells, a T cell subset thought to be responsible for inducing B cell immunoglobulin production. Our results suggest that the B cell abnormalities seen in JRA may be related to defects in T cell immunoregulation.

Abnormalities of immunoregulation in Kawasaki syndrome.

The object of our investigation was to determine the immunoregulatory abnormalities in 48 children with Kawasaki syndrome. We demonstrated a global lymphocytosis with marked expansion of the B cell subset. Despite an increase in B cell numbers, there was a decrease in in vitro immunoglobulin production in response to pokeweed mitogen and hydrocortisone stimulation. These abnormalities correlated with a marked increase in the percentage of CD4+2H4+ (CD4+CD45R+) T cells, a T cell subset thought to be responsible for inducing suppression. Other abnormalities of T cells include cutaneous and in vitro anergy and evidence of T cell activation. Our results suggest that the B cell abnormalities seen in Kawasaki syndrome may be partially explained by defects in T cell immunoregulation.