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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    TLDR MCTD should be considered in children with recurring muscle issues, lupus-like symptoms, and edema.
    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 high anti-U1 RNP antibody levels. Treatment with immunomodulator drugs led to disease remission. The study highlights the importance of considering MCTD in pediatric patients with recurrent muscular issues, lupus-like symptoms, and edema, and suggests that serum anti-U1 RNP testing is a valuable diagnostic tool.
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