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• Vol.64 No.7
• CLINICA NEUROL, 64: 480−485, 2024
• Vol.64 No.7 contents

Case Report

Diagnosis of anti-melanoma differentiation-associated gene 5 antibody-positive dermatomyositis led by sarcoplasmic myxovirus resistance protein A expression on muscle pathology

Kosuke Iwami, M.D.^1）, Takahiro Kano, M.D., Ph.D.^1）, Keiichi Mizushima, M.D.^2）, Hiroaki Yaguchi, M.D., Ph.D.^2）, Ichizo Nishino, M.D., Ph.D.^3） and Hideki Houzen, M.D., Ph.D.^1）

¹⁾ Department of Neurology, Obihiro Kosei General Hospital
²⁾ Department of Neurology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University
³⁾ Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP)

A 44-year-old woman with autism spectrum disorder developed bulbar symptoms and generalized muscle weakness 7 months before referral. Six months before, she was administered glucocorticoid for liver involvement. During the course, while she presented alopecia, skin ulcers, and poikiloderma, hyperCKemia was observed only twice. Due to complications including cardiac involvement and hearing loss as well, we suspected mitochondrial disease and performed a muscle biopsy. The muscle pathology showed sarcoplasmic myxovirus resistance A (MxA) expression with scattered pattern. Since anti-melanoma differentiation-associated gene 5 (MDA5) antibody was detected, we diagnosed the patient with anti-MDA5 antibody-positive dermatomyositis (DM). We reinforced immunosuppressive therapy, and her clinical symptoms and liver involvement were improved. When we diagnose a case of anti-MDA5 antibody-positive DM who is difficult to make clinical diagnosis, it may be valuable to evaluate sarcoplasmic MxA expression on muscle pathology.
Full Text of this Article in PDF (2405K)

(CLINICA NEUROL, 64: 480−485, 2024)
key words: anti-MDA5 antibody, dermatomyositis, MxA, muscle pathology

(Received: 27-Dec-23)