Isolated Cysticercosis of Sternocleidomastoid Muscle: Role of Ultrasonography

Cysticercosis is considered a common healthcare problem, especially in developing countries. The invasion of muscle by the larval stage of the pork tapeworm, Taenia solium (i.e., Cysticercus cellulosae) usually occurs in association with CNS cysts, concurrent muscle cysts, or both. Isolated skeletal muscle involvement is rare and presents with nonspecific symptoms resulting in a diagnostic dilemma for the treating physician. We report a 20-year-old female with isolated cysticercosis of right sternocleidomastoid muscle presenting as a right neck swelling and mild pain for 4 months, whose diagnosis was established by ultrasonography (USG) and computed tomogram (CT) scan. She was managed conservatively with oral albendazole therapy for four weeks resulting in complete resolution.

Expanding Spectrum of Desmin-Related Myopathy, Long-term Follow-up, and Cardiac Transplantation

Objective:We aimed to determine the genetic and clinical phenotypes of desmin-related myopathy patients and long-term outcomes after cardiac transplant.Methods:Retrospective review of cardiac and neurological manifestations of genetically confirmed desmin-related myopathy patients (Jan 1st, 1999-Jan 1st, 2020).Results:Twenty-five patients in 20 different families were recognized. Median age at onset of symptoms was 20 years (range: 4-50), median follow-up time of 36 months (range: 1-156). Twelve patients initially presented with skeletal muscle involvement and 13 with cardiac disease. Sixteen patients had both cardiac and skeletal muscle involvement. Clinically muscle weakness distribution was distal (n=11), proximal (n=4) or both (n=7) of 22 patients. Skeletal muscle biopsy from patients with missense and splice site variants (n=12) showed abnormal fibers containing amorphous material in Gomori trichrome stained sections. Patients with cardiac involvement had atrioventricular conduction abnormalities or cardiomyopathy. The most common ECG abnormality was complete AV block in 11 patients all of whom required a permanent pacemaker at a median age of 25 years (range: 16-48). Sudden cardiac death resulting in implantable cardioverter defibrillator (ICD) shocks or resuscitation were reported in 3 patients, a total of 5 patients had ICDs. Orthotopic cardiac transplantation was performed in 3 patients at 20, 35 and 39 years of age.Conclusions:Pathogenic variants in desmin can lead to varied neurological and cardiac phenotypes beginning at a young age. Two-thirds of the patients have both neurologic and cardiac symptoms usually starting in the third decade. Heart transplant was tolerated with improved cardiac function and quality of life.

P049 Skeletal muscle involvement in COVID-19 infection: a case report and systematic review

Background/Aims It is increasingly understood that COVID-19 has a very broad range of multi-system manifestations. Myalgia is a widely publicised feature of SARS-CoV-2 infection, however, more severe muscle injury can occur. There are several case reports of rhabdomyolysis with marked elevation in creatine kinase (CK) and myoglobinuria, leading to acute renal failure, but also reports of myositis characterised by weakness, mildly raised CK and muscle oedema on MRI. We present a systematic literature search to evaluate the clinical characteristics of skeletal muscle involvement. Methods A systematic search for terms related to "SARS-CoV-2" and "myalgia", "myositis", "rhabdomyolysis" or "muscle" was performed across four search engines (Web of Science, Pubmed, Mednar and Medrxiv) on 10/09/2020. Only original research published or translated in English was included. Information relating to skeletal muscle injury in confirmed SARS-CoV-2 infection was summarised. Results The search protocol identified 980 articles of which 200 were appropriate for abstract review. 21 case reports covering 22 patients with rhabdomyolysis were found. Other muscular pathology not defined as rhabdomyolysis by authors, included 1 case of acute myositis leading to compartment syndrome, 2 cases of myositis with classical proximal weakness, elevated creatine kinase and proximal muscle oedema on imaging, and one series of 7 patients with paraspinal myositis on MRI imaging. A histopathological study found evidence of incidental myositis in 2 cases. Critical care myopathy and polyneuropathy are described, along with many other neurological manifestations. While 91 cohort studies were identified, none looked in detail at skeletal muscle involvement. There are 8 meta-analyses which find the prevalence of myalgia between 19-33%. The age of rhabdomyolysis patients appears lower than expected for covid-19 admissions at 46.7 years, but ranged from 16 to 88. Baseline characteristics mirror those at higher risk of severe covid-19: half had either hypertension, type 2 diabetes or obesity and 86.4% were male. Common accompanying symptoms were myalgia (81.8%), fever (68.2%), cough (59.1%), dyspnoea (40.9%). Median peak CK was 22,511IU/L. 68.2% had changes consistent with covid-19 on chest imaging. Intravenous haemofiltration or mechanical ventilation were each required by 4 patients. Short term prognosis showed 18 (81.8%) being discharged, 2 deaths (9.1%) and 2 unknown outcomes. Conclusion Severe skeletal manifestations such rhabdomyolysis occur in covid-19. More research is needed to discover if this is through direct viral invasion of the tissues, or indirectly via systemic cytokine release, hyperlactataemia and hypo-oxygenation. CK should be routinely checked in those critically unwell or with severe myalgia or weakness to identify treatable rhabdomyolysis early. Chronic autoimmune conditions such as the idiopathic inflammatory myopathies may have viral environmental triggers, and one case tested positive for a myositis specific antibody. Whether patients with acute covid-19 related myositis experience ongoing long-term muscle inflammation has not yet been reported. Disclosure J.R. Hannah: None. S. Ali: None. J. Galloway: None. P. Gordon: None.

Skeletal Muscle Involvement in Wilson Disease: Clinical and Magnetic Resonance Imaging (MRI) Observations in 2 Families

Objective: Skeletal muscle involvement in Wilson disease is rare. Calf muscle pain might be attributed as growing pain in children. We report calf muscle involvement in Wilson disease and describe the magnetic resonance imaging (MRI) findings of leg, differential diagnosis with literature review. Patients and Methods: Our observations describe calf muscle MRI abnormality in 5 cases of Wilson disease from 2 families. The clinical presentations were neurologic in 3, hepatic in 1, and asymptomatic in 1 patient. We systematically describe the clinical characteristics and their calf muscle MRI findings. Results: Three patients had bilateral calf pain and intermittent cramps. The pain was of mild to moderate intensity and managed symptomatically. Serum alkaline phosphatase, creatinine phosphokinase, and needle electromyography were normal. Turbo inversion recovery magnitude sequence MRI of calf muscle revealed hyperintensity in bilateral gastrocnemii muscles. These muscles appear hyperintense in diffusion-weighted imaging. Conclusion: The calf muscle involvement could be attributed to muscle edema due to copper-induced muscle toxicity mediated by inhibition of Na+/K+-ATPase on cellular membranes of fast-twitch gastrocnemii muscles which contain predominant type II myofiber. In Wilson disease patients with calf pain or cramps, muscle MRI may show nonspecific gastrocnemius hyperintensity. Further evaluation may give insight into its pathophysiology.

THU0365 INCREASED HSP90 IN MUSCLE TISSUE AND PLASMA ASSOCIATES WITH DISEASE ACTIVITY AND SKELETAL MUSCLE INVOLVEMENT IN PATIENTS WITH IDIOPATHIC INFLAMMATORY MYOPATHIES

Background:Heat shock proteins (Hsps) are chaperones playing important roles in skeletal muscle physiology, adaptation to exercise or stress, and activation of inflammatory cellsObjectives:The aim of our study was to assess Hsp90 expression in muscle biopsies and plasma of patients with idiopathic inflammatory myopathies (IIM) and to characterize its association with IIM-related features.Methods:Total of 277 patients with IIM (198 females, 79 males; mean age 54.8; disease duration 4.1 years; DM, 104/PM, 108/CADM, 31/IMNM, 25) and 157 healthy individuals (92 females, 65 males; mean age 47.0) were included in plasma analysis. Muscle biopsy samples (PM, DM, IMNM, myodystrophy, myasthenia gravis) were stained for Hsp90α (Thermo Fisher Scientific, USA) and Hsp90β (Abcam, UK). Plasma Hsp90 was measured by ELISA kit (eBioscience, Vienna, Austria). The cytokines/chemokines were analysed by using Bio-Plex ProTMhuman Cytokine 27-plex Assay (BIO-RAD, California, USA.Data are presented as median(IQR).Results:In muscle biopsies, Hsp90 expression of both subunits (alpha and beta) was higher in IIM than in controls. Increased Hsp90 was detected in perifascicular degenerating and regenerating fibers, inflammatory cells (DM, PM), and necrotic and regenerating fibers (IMNM). Plasma Hsp90 levels were increased in IIM patients compared to healthy controls (55.9 (46.9 – 62.5)vs 9.76(7.5 – 13.8), p<0.0001), and in individual subgroups of IIM vs. healthy controls (DM-22.01(14.1 – 41.2), PM-19.7(14.3 – 42.2), CADM-18.9(11.7 – 29.7), IMNM-19.6(16.3 – 45.5), p<0.0001 for all). Hsp90 was higher in males compared to females (p=0.040) and in patients with ILD (p=0.003), cardiac involvement (p=0.004), dysphagia (p=0.018) and presence of anti-Ro52 (p=0.036). Hsp90 levels in all patients positively correlated with muscle enzymes (Tab.1). Hsp90 was associated with disease activity and skeletal muscle involvement (Tab.1). Out of all clinical parameters listed in above-mentioned univariate analysis, in multiple regression analysis Hsp90 levels in IIM patients were significantly affected by muscle enzymes only (p<0.0001, β=0.345). Furthermore, Hsp90 positively correlated with some crucial cytokines involved in pathogenesis of myositis (Tab. 1).Tab 1Clinical parametersSpearman’s rp – valueLDH; AST; ALT0.554; 0.383; 0.181< 0.0001; < 0.0001; 0.003PtDGA; PhDGA; MITAX; MYOACT0.223; 0.217; 0.175; 0.159< 0.001; < 0.001; 0.004; 0.012Pulmonary disease activity0.2010.001Muscle disease activity0.1460.018MMT8, total score; m. biceps brachii; m. gluteus maximus; m. iliopsoas-0.126; -0.125; -0.159; -0.1430.042; 0.043; 0.011; 0.023MDI – Myositis damage index – severity0.1500.041Current Prednisone equivalent dose0.1830.006Cytokines:IL-1b; IL-2; IL-4; IL-6; IFN-γ0.188; 0.269; 0.190; 0.182; 0.2290.002; < 0.0001; 0.002; 0.003; < 0.0001Conclusion:We demonstrate increased Hsp90 expression in IIM muscle biopsy samples, specifically in inflammatory cells, degenerating, regenerating and/or necrotic fibers. Increased Hsp90 plasma levels in IIM patients are associated with disease activity and damage, and with the involvement of proximal skeletal muscles, heart and lungs.Acknowledgments:Supported by AZV-16-33542A, MHCR 023728 and SVV – 260373.Disclosure of Interests:Hana Štorkánová: None declared, Sabina Oreska: None declared, Maja Špiritović: None declared, Barbora Heřmánková: None declared, Olga Kryštůfková: None declared, Heřman Mann: None declared, Martin Komarc: None declared, Josef Zámečník: None declared, Karel Pavelka Consultant of: Abbvie, MSD, BMS, Egis, Roche, UCB, Medac, Pfizer, Biogen, Speakers bureau: Abbvie, MSD, BMS, Egis, Roche, UCB, Medac, Pfizer, Biogen, Jiří Vencovský: None declared, Ladislav Šenolt: None declared, Michal Tomcik: None declared

A Case of Immune-Mediated Necrotizing Myopathy With Associated Skeletal Muscle Involvement by Sarcoid Granulomata: A Rare Association

Skeletal muscle involvement by noncaseating granulomata occurs in a variety of conditions, including sarcoidosis, infections, and rarely in association with primary inflammatory myopathies such as inclusion body myositis (IBM) and dermatomyositis (DM). Sarcoid myopathy is typically asymptomatic; however, a picture of acute myositis with proximal muscle weakness has been described. Immune-mediated necrotizing myopathy (IMNM) is a subgroup of inflammatory myopathies typically presenting with proximal muscle weakness and markedly elevated muscle enzymes, mostly occurring in the setting of statin treatment. IMNM is associated with positive autoantibodies, but a subset of cases is antibody negative. Here we describe a case of myopathy occurring in association with sarcoidosis with combined features of granulomatous and necrotizing myopathy. The patient was a 54-year-old African American male with medical history significant for statin use 3 years ago, which was discontinued due to myalgia and elevated muscle enzymes and biopsy-proven sarcoidosis diagnosed on a pulmonary lymph node biopsy. He presented with progressive worsening of bilateral proximal weakness involving the upper and lower extremities. Electromyogram showed features of active myopathy with no evidence of peripheral neuropathy. Myositis panel was negative for the following antibodies: anti-Jo1, Mi-2, anti-Ku, PL-7, PL-12, OJ, EJ, and SRP. However, there was elevation of aldolase, CRP, and CK-MB. Biopsy of thigh and deltoid muscle showed necrotic muscle fibers, myophagocytosis with associated minimal inflammation, and multiple well-formed nonnecrotizing granulomas with multinucleated giant cells. Myopathic features include increased internalized nuclei, round atrophic fibers, and scattered split fibers. Specific features of IBM or DM were not present. Conclusion Myopathies developing or worsening after discontinuation of statin are rare. The association of necrotizing myopathy with sarcoidosis is not well described in the literature. Additional studies are warranted to elucidate this association.