Language：English   Publishing type：Research paper (scientific journal)  

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. Levels of myogenic enzymes and hypergammaglobulinemia were elevated. Macrophages were prominent in bone marrow, with scattered phagocytic macrophages. MCTD was diagnosed based on the patient's symptoms and laboratory findings. Methylprednisolone pulse therapy combined with oral tacrolimus was administered, which led to resolution of symptoms. Three months after pulse therapy, arthralgia worsened and methotrexate was administered. Arthralgia improved but did not resolve. Magnetic resonance imaging performed to investigate the hip pain revealed a mature ovarian teratoma, which was surgically removed. Because the pain persisted and interfered with her daily life, she was treated with tocilizumab for joint pain relief, which decreased the pain level. Tocilizumab is a candidate for additional treatment of juvenile idiopathic arthritis-like arthritis associated with childhood-onset MCTD.

DOI： 10.1272/jnms.JNMS.2025_92-303

PubMed

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Language：English   Publishing type：Research paper (scientific journal)  

Trisomy 21 is sometimes complicated by congenital heart disease; however, comorbid type I diabetes mellitus and diseases involving autoantibodies such as Hashimoto's disease and Graves' disease are not uncommon. In contrast, autoinflammatory diseases such as Kawasaki disease and systemic juvenile idiopathic arthritis are rarely observed. We report a rare case of trisomy 21 with systemic juvenile idiopathic arthritis that responded well to the first course of methylprednisolone pulse therapy, but flared up and was complicated by macrophage activation syndrome (MAS). Subsequent methylprednisolone pulse therapy and cyclosporine resolved this condition. Cytokine analyses at several time points during the clinical course revealed that interleukin-18, interleukin-6, and chemokine ligand 9 levels were elevated even MAS onset in the patient with trisomy 21 once the clinical symptoms seemed to have settled down. Thus, in the future, early analysis of cytokine profiles should be performed for risk assessments of MAS and for determining the treatment intensity, even T21 patients.

DOI： 10.1272/jnms.JNMS.2023_90-605

PubMed

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Language：Japanese   Publisher：(一社)日本小児リウマチ学会  

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Language：Japanese   Publisher：(一社)日本小児リウマチ学会  

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Language：Japanese   Publisher：日本医科大学医学会  

13歳男子。COVID-19感染後に両側眼瞼下垂が出現し、近医の眼科にて経過観察を行なうも軽快せず、当科へ紹介となった。脳神経所見やMRIでは異常所見はみられず、抗AChR受容体、抗MuSK抗体も陰性であった。しかし、テンシロン試験、アイスパック試験ともに陽性であり、眼筋型の重症筋無力症(MG)と診断された。診断後はピリドスチグミンの内服を行なうも、効果なく、眼瞼下垂の増悪や外転障害による複視を合併した。症状の増悪時に抗AChR抗体は陽転化し、MRIでは上縦隔内に異所性胸腺がみられた。入院後、PSLの内服が行われたが、症状が改善しないため、mPSLパルス療法を施行した。その結果、眼瞼下垂、外転障害の消失とともに、抗AChR抗体も陰性化し、入院35日目に退院となった。尚、QMGスコアは入院時の12点から退院時には7点まで改善し、退院6ヵ月経過現在、症状の再燃や異所性胸腺の増加傾向もなく、良好である。

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Other Link： https://search.jamas.or.jp/default/link?pub_year=2024&ichushi_jid=J04260&link_issn=&doc_id=20240909190020&doc_link_id=10.1272%2Fmanms.20.216&url=https%3A%2F%2Fdoi.org%2F10.1272%2Fmanms.20.216&type=J-STAGE&icon=https%3A%2F%2Fjk04.jamas.or.jp%2Ficon%2F00007_3.gif

Language：Japanese   Publisher：(公社)日本小児科学会  

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Language：Japanese   Publisher：(公社)日本小児科学会  

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