ABSTRACT
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.
Subject(s)
Abnormalities, Multiple , Arthritis/complications , Eye Diseases/complications , Meningitis/complications , Skin Diseases/complications , Adolescent , Adult , Anterior Eye Segment/abnormalities , Arthritis/pathology , Child , Child, Preschool , Chronic Disease , Eye Abnormalities/complications , Eye Abnormalities/pathology , Eye Diseases/pathology , Female , Fluorescein Angiography , Humans , Male , Meningitis/pathology , Optic Atrophy/complications , Optic Atrophy/pathology , Optic Disk/pathology , Papilledema/complications , Papilledema/pathology , Skin Diseases/pathology , Syndrome , Uveitis, Anterior/complications , Uveitis, Anterior/pathology , Visual AcuityABSTRACT
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.
Subject(s)
Arthritis, Juvenile/physiopathology , Immune System/physiopathology , Adolescent , Adult , Arthritis, Juvenile/metabolism , Arthritis, Juvenile/pathology , Child , Child, Preschool , Enzyme-Linked Immunosorbent Assay , Female , Hemolytic Plaque Technique , Humans , Hydrocortisone/pharmacology , Immunoglobulins/biosynthesis , Infant , Lymphocytes/classification , Male , Pokeweed Mitogens/pharmacologyABSTRACT
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.