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Background: Mixed Connective Tissue Disease (MCTD) is a rare condition in children, characterized by a high titer of anti-ribonucleoprotein-U1 (anti-U1 RNP) antibodies, often presenting with overlapping features of two or more rheumatologic disorders, including juvenile idiopathic arthritis (JIA), systemic lupus erythematous (SLE), systemic sclerosis (SSc), and juvenile dermatomyositis/polymyositis (JDM/PM).
Case Presentation: We report the case of an 8-year-old girl with a history of fever, hair loss, lower extremities edema, weakness, oral aphthous ulcers, and a high titer of anti-U1 RNP antibodies, which is consistent with the diagnosis of MCTD. The patient received immunomodulator drugs, and her disease went into remission.
Conclusion: Diagnosing MCTD in pediatric patients can be challenging. It should be considered especially in cases with recurrent muscular weakness or pain, lupus-like manifestations, and edema. Moreover, serum anti-U1 RNP testing can be a helpful diagnostic tool.
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http://dx.doi.org/10.2174/0115733971272403231221103006 | DOI Listing |
Cureus
October 2024
Rheumatology, University of Ottawa, Ottawa, CAN.
Mixed connective tissue disease (MCTD) is an autoimmune disorder characterized by high levels of anti-U1 ribonucleoprotein (RNP) antibodies and overlapping clinical features of autoimmune diseases, such as systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and polymyositis (PM). Anti-Ku antibodies have been associated with overlap syndromes, which can present with symptoms such as Raynaud's phenomenon, arthritis, and myositis. A 19-year-old male athlete presented with myositis, notable for cardiac involvement.
View Article and Find Full Text PDFJ Pers Med
June 2024
Immunology and Allergology Laboratory, S. Giovanni di Dio Hospital, 50143 Florence, Italy.
Background: The early reliable detection and quantification of autoantibodies play an important role in autoimmune disease diagnosis and in disease-course monitoring. New technologies, such as the multiplexed determination of autoantibodies, have recently been introduced and are being adopted more frequently. The aim of this study was to evaluate the ability of a new microdot array-based multiparametric assay (ZENIT AMiDot CTD panel, A.
View Article and Find Full Text PDFMixed connective tissue disorder (MCTD) is the first overlap syndrome described with features of overlapping manifestations of at least two other autoimmune rheumatic conditions. It is an autoimmune disease of rarity and is strongly associated with specific antibodies to U1 small nuclear ribonucleoprotein (anti-U1-RNP). This disorder affects almost all organs of the body, and it has varied clinical presentations as it has an autoimmune and inflammatory background, causing heightened immune cell activation.
View Article and Find Full Text PDFJ Nippon Med Sch
June 2024
Department of Pediatrics, Nippon Medical School.
Mixed connective tissue disease (MCTD) is characterized by mixed features of systemic lupus erythematosus, systemic sclerosis, and polymyositis/dermatomyositis and is rare in children. Here, we report a case of MCTD in a 10-year-old girl who presented at our hospital with arthralgia, Raynaud's phenomenon, and fatigue. Blood tests were positive for anti-U1-ribonucleoprotein (RNP) antibodies and for rheumatoid factors (RFs) IgG-RF and anti-galactose-deficient IgG.
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