PMID- 37624542 OWN - NLM STAT- MEDLINE DCOM- 20231114 LR - 20231114 IS - 1590-3478 (Electronic) IS - 1590-1874 (Linking) VI - 44 IP - 12 DP - 2023 Dec TI - Prominent mitochondrial pathology in a case of refractory dermatomyositis: coincidence or concause? PG - 4525-4529 LID - 10.1007/s10072-023-07035-w [doi] AB - INTRODUCTION: Mitochondrial alterations are a common finding in muscle biopsy of sporadic inclusion body myositis (s-IBM) and polymyositis with mitochondrial pathology (PM-Mito). Both disorders generally have poor treatment response. Nevertheless, mitochondrial myopathology has been rarely reported in dermatomyositis (DM) outside areas of perifascicular atrophy and a relationship with therapeutic outcome is not established. METHODS: We report on clinical, immunological, radiological, and myopathological findings of a case of severe, treatment-refractory anti-Mi-2-positive DM. RESULTS: A 77-year-old woman developed anti-Mi-2 DM with severe diffuse muscle weakness associated with abundant mitochondrial abnormalities at muscle biopsy, beside the typical features of inflammatory myopathy. The patient was poorly responsive to multiple-line therapies and finally anti-JAK (anti-Janus activated kinase) was administered, leading to partial clinical improvement. DISCUSSION: Given the usual satisfactory treatment response and favorable outcome of anti-Mi-2 DM, we suppose that mitochondrial dysfunction on muscle biopsy could represent a marker of disease severity in DM, predicting a worse response to treatment and a poor clinical outcome. JAK-inhibitors could represent a good treatment option in refractory anti-Mi-2 DM with mitochondrial abnormalities. CI - (c) 2023. Fondazione Societa Italiana di Neurologia. FAU - Lauletta, Antonio AU - Lauletta A AUID- ORCID: 0000-0001-8853-7280 AD - Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Neuromuscular and Rare Disease Centre, Sant'Andrea Hospital, SAPIENZA University of Rome, Via Di Grottarossa 1035-1039, 00189, Rome, Italy. antonio.lauletta@uniroma1.it. FAU - De Carolis, Lanfranco AU - De Carolis L AD - Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Neuromuscular and Rare Disease Centre, Sant'Andrea Hospital, SAPIENZA University of Rome, Via Di Grottarossa 1035-1039, 00189, Rome, Italy. FAU - Teresi, Valentina AU - Teresi V AD - Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Neuromuscular and Rare Disease Centre, Sant'Andrea Hospital, SAPIENZA University of Rome, Via Di Grottarossa 1035-1039, 00189, Rome, Italy. FAU - Fionda, Laura AU - Fionda L AD - Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Neuromuscular and Rare Disease Centre, Sant'Andrea Hospital, SAPIENZA University of Rome, Via Di Grottarossa 1035-1039, 00189, Rome, Italy. FAU - Leonardi, Luca AU - Leonardi L AD - Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Neuromuscular and Rare Disease Centre, Sant'Andrea Hospital, SAPIENZA University of Rome, Via Di Grottarossa 1035-1039, 00189, Rome, Italy. FAU - Ceccanti, Marco AU - Ceccanti M AD - Neuromuscular Disorders Unit, Department of Human Neurosciences, Sapienza University, Rome, Italy. FAU - Costanzo, Rocco AU - Costanzo R AD - Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Neuromuscular and Rare Disease Centre, Sant'Andrea Hospital, SAPIENZA University of Rome, Via Di Grottarossa 1035-1039, 00189, Rome, Italy. FAU - Rossini, Elena AU - Rossini E AD - Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Neuromuscular and Rare Disease Centre, Sant'Andrea Hospital, SAPIENZA University of Rome, Via Di Grottarossa 1035-1039, 00189, Rome, Italy. FAU - Tufano, Laura AU - Tufano L AD - Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Neuromuscular and Rare Disease Centre, Sant'Andrea Hospital, SAPIENZA University of Rome, Via Di Grottarossa 1035-1039, 00189, Rome, Italy. FAU - Merlonghi, Gioia AU - Merlonghi G AD - Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Neuromuscular and Rare Disease Centre, Sant'Andrea Hospital, SAPIENZA University of Rome, Via Di Grottarossa 1035-1039, 00189, Rome, Italy. FAU - Morino, Stefania AU - Morino S AD - Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Neuromuscular and Rare Disease Centre, Sant'Andrea Hospital, SAPIENZA University of Rome, Via Di Grottarossa 1035-1039, 00189, Rome, Italy. FAU - Garibaldi, Matteo AU - Garibaldi M AD - Department of Neuroscience, Mental Health and Sensory Organs (NESMOS), Faculty of Medicine and Psychology, Neuromuscular and Rare Disease Centre, Sant'Andrea Hospital, SAPIENZA University of Rome, Via Di Grottarossa 1035-1039, 00189, Rome, Italy. LA - eng PT - Case Reports PT - Journal Article DEP - 20230825 PL - Italy TA - Neurol Sci JT - Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology JID - 100959175 SB - IM MH - Female MH - Humans MH - Aged MH - *Dermatomyositis/complications/drug therapy MH - Muscle, Skeletal MH - *Polymyositis/drug therapy/pathology MH - *Myositis MH - *Myositis, Inclusion Body/pathology OTO - NOTNLM OT - Anti-Mi-2 dermatomyositis OT - JAK-inhibitors OT - Refractory dermatomyositis OT - Skeletal muscle mitochondrial pathology EDAT- 2023/08/25 12:43 MHDA- 2023/11/14 06:43 CRDT- 2023/08/25 11:10 PHST- 2023/06/30 00:00 [received] PHST- 2023/08/21 00:00 [accepted] PHST- 2023/11/14 06:43 [medline] PHST- 2023/08/25 12:43 [pubmed] PHST- 2023/08/25 11:10 [entrez] AID - 10.1007/s10072-023-07035-w [pii] AID - 10.1007/s10072-023-07035-w [doi] PST - ppublish SO - Neurol Sci. 2023 Dec;44(12):4525-4529. doi: 10.1007/s10072-023-07035-w. Epub 2023 Aug 25.