Mixed Connective Tissue Disease in a Girl with Lower Extremities Edema: A Brief Report

    April 2024 in “ Current Rheumatology Reviews
    Niloofar Shashaani, Mehrnoush Hassas Yeganeh, Reza Sinaei, Shima Salehi, Reza Shiari
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    Mixed Connective Tissue Disease (MCTD) in children is rare and often presents with overlapping features of multiple rheumatologic disorders. This report discusses an 8-year-old girl with symptoms including fever, hair loss, lower extremities edema, weakness, and oral ulcers, who was diagnosed with MCTD due to a high titer of anti-U1 RNP antibodies. Treatment with immunomodulator drugs led to disease remission. The case highlights the diagnostic challenges of MCTD in pediatric patients and suggests that serum anti-U1 RNP testing can be a valuable diagnostic tool, especially in cases with recurrent muscular weakness, lupus-like symptoms, and edema.
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