医学
肌肉活检
肌病
近端肌无力
弱点
甲氨蝶呤
肌肉无力
胃肠病学
美罗华
青少年皮肌炎
内科学
炎性肌病
皮肌炎
活检
耐火材料(行星科学)
外科
物理
淋巴瘤
天体生物学
作者
Seher Şener,Ezgi Deniz Batu,Seher Sari,Müşerref Kasap Cüceoğlu,Attila Yıldız,Beril Talim,Üstün Aydıngöz,Seza Özen,Göknur Haliloğlu
出处
期刊:Journal of neuromuscular diseases
[IOS Press]
日期:2023-03-07
卷期号:10 (2): 279-291
摘要
Background/Objective: Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) myopathy is rare in children. Here, we present a boy with relapsing refractory anti-HMGCR myopathy along with a systematic literature review. Case Report: 17-year-old boy with five years of muscle weakness, rash, high creatinine kinase (CK) levels, and muscle biopsy compatible with inflammatory myopathy was diagnosed with juvenile dermatomyositis. He was treated with corticosteroids, intravenous immunoglobulin (IVIG), and methotrexate. His muscle weakness improved with this treatment although never completely resolved. CK levels decreased from ∼15000 U/L to ∼3000 U/L. At the age of 15, muscle weakness relapsed after an upper respiratory tract infection; pulse corticosteroid treatment was administered. The re-evaluated muscle biopsy showed a necrotizing pattern and the HMGCR antibody was positive confirming anti-HMGCR myopathy when he was 16. The diagnostic delay was 50 months. Disease activity was monitored by Medical Research Council score, MRI and functional tests. Despite corticosteroids, methotrexate, IVIG, cyclosporine A, and rituximab therapies, muscle weakness improved only slightly during the first three months and remained stable afterwards. Results of the Literature Search: We identified 16 articles describing 50 children (76% female) with anti-HMGCR myopathy by reviewing the English literature up to March 1st, 2022. Proximal muscle weakness was the most common clinical symptom (70.8%). Corticosteroids (84.8%), IVIG (58.7%), and methotrexate (56.5%) were preferred in most cases. Complete remission was achieved in nine patients (28.1%). Conclusion: Diagnosis and management of children with anti-HMGCR myopathy are challenging. Complete remission is achieved in only one third of these patients. Imaging biomarkers may aid treatment.
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