Juvenile rheumatoid arthritis in velo-cardio-facial syndrome: Coincidence or unusual complication?

Abstract

We report on two patients with velo‐cardiofacial syndrome (VCFS) and juvenile rheumatoid arthritis (JRA). The first, a 9‐year‐old girl, presented with microcephaly, characteristic face, congenital heart disease, and velopharyngeal insufficiency. Fluorescence in situ hybridization (FISH) study showed deletion of D22S75 (N25), confirming the diagnosis of VCFS. At age 7, she developed joint pain, and polyarticular JRA was diagnosed. Awareness of this case led to the subsequent diagnosis of VCFS (also confirmed by FISH) in another, unrelated 12‐year‐old girl with characteristic face, hypernasal speech, and obesity. JRA was first diagnosed in this case at age 5 years, and she subsequently developed severe polyarticular disease. Neither patient had clinical or laboratory evidence of immunodeficiency. This observation represents the first report of the association of JRA with VCFS and raises the question of whether this is a coincidental association or a rare complication of this condition. © 1996 Wiley‐Liss, Inc.

Clinical characteristics of children with hypoparathyroidism due to 22q11.2 microdeletion

“…It appears reasonable that patients with del22q11.2 are predisposed to auto-immune disease as a result of thymic dysfunction. In the literature, two girls have been reported with the association of VCFS and juvenile rheumatoid arthritis [15]. Recently, ITP in two females with del22q11.2 has been described, one of whom has chronic but mild thrombocytopenia like our case 8 [9].…”

Immunological aspects of 22q11.2 deletion syndrome

“…Currently, there are no biomarkers to identify or predict which patients will develop autoimmune features [71]. A range of autoimmune features have been described including cytopenias, systemic autoimmunity, particularly rheumatoid arthritis, and organspecific autoimmunity, most notably autoimmune thyroid disease [71,83,84,86,[94][95][96][97]. Other immunological abnormalities, including IgA deficiency may be associated [85].…”

Auto-immune pancytopenia in a child with DiGeorge syndrome

“…Pinchas et al [17] observed in a 5-year-old girl with DGS, a liver disease with epitheliod granulomata, smooth muscle Study showed decreased lifespan and splenic sequestration antibodies and mononuclear cell infiltrate supporting the diagnosis of granulomatous hepatitis, of probable auto-immune origin. Rasmussen et al [18] described the occurrence of juvenile rheumatoid arthritis in two children with VCFS.…”

“…Now, this concept is not sufficient to embrace all the phenotypic forms of the 22q11 microdeletion -the term ''22q11.2 deletion syndrome'' is now widely used [2,15,19]. A few observations of auto-immune disorders have been reported in patients with the 22q11 deletion [1,3,8,11,13,17,18]. To the best of our knowledge, six observations of auto-immune cytopenia have been reported in the literature [1,3,13,17].…”