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G.P.76
Abstracts / Neuromuscular Disorders 24 (2014) 791–924 patients, pathologic findings, associated risk factors and response to immunosuppressive therapies are discussed. http://dx.doi:10.1016/j.nmd.2014.06.087
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stains in inflammatory myopathy have been created some suspicions such as mitochondrial dysfunction may induce pathologic inflammatory response or an abnormal inflammatory response may be a contributory factor in mitochondrial dysfunction. http://dx.doi:10.1016/j.nmd.2014.06.089
G.P.74 Anti-Signal Recognition Particle associated myopathy in a multiethnic Malaysian population T. Ambang, J.S. Tan, T.E. Cheah, N. Shahrizaila, K.T. Wong, K.J. Goh University of Malaya, Kuala Lumpur, Malaysia Anti-Signal Recognition Particle (SRP) myopathy is a complement dependent antibody-mediated necrotising myopathy which is often clinically more severe and require longer and more aggressive immunosuppressive treatment. We describe a series of Malaysian patients with anti-SRP myopathy. Of 30 patients with idiopathic inflammatory myopathy, seen prospectively at the University of Malaya Medical Centre, Kuala Lumpur between 2012 and 2014, eight (26.7%) had positive anti-SRP antibodies. All patients were female, of whom four were ethnic Malays and four, ethnic Chinese. Their mean age of disease onset was 37 years (range 24–60 years). All presented with progressive severe proximal muscle weakness. Mean serum creatine kinase at presentation was 4994 u/L (range 385–14,000 iu/L). Muscle histopathology showed muscle fibre necrosis with variable regenerative features. Inflammation ranged from minimal to severe infiltration of lymphocytes in seven patients and in one patient, there was marked variation of fibre size with interstitial fibrosis, morphological features similar to that of muscular dystrophy. All patients responded only partially to corticosteroids and other immunosuppressive agents including methotrexate, mycophenolate mofetil, azathioprine and IVIG. Rituximab was given to one patient but with minimal improvement. Other associated autoantibodies found included anti Ro-52 in 50% and anti PM-Scl75 and anti PL-12 in 25% respectively. None had associated interstitial lung disease nor underlying malignancy. In prospective series inflammatory myopathy patients seen at a tertiary Malaysian hospital, anti-SRP myopathy was seen a quarter of the patients. The clinical picture was similar to anti-SRP myopathy reported from other populations. http://dx.doi:10.1016/j.nmd.2014.06.088
G.P.75 A rare inflammatory myopathy with cytochrome oxidase negative muscle fiber patient which presents in chidhood: Case report G. Diniz 1, O. Yavascan 2, Z. Yildirim 2, B. Sarkis 2, C. Alparslan 2, C. Ozturk 2 1 Izmir Neuromuscular Diseases’ Centre, Izmir, Turkey; 2 Tepecik Research Hospital, Izmir, Turkey We describe a 10-year old girl with progressive lower limb weakness and myalgia. With increased serum muscle enzymes, erythrocyte sedimentation rate, proximal muscle weakness, and EMG findings, she was considered as an inflammatory myopathy. Oral prednisolone (2 mg/ kg/day) treatment was started. During clinical observation patient showed no response to treatment and muscle biopsy was performed. Muscle biopsy showed COX-negative fibers without discrete inflammatory infiltrates and necrotizing features. Mitochondrial DNA analysis did not reveal any mutation. The patient was diagnosed as “inflammatory myopathy with COX negative fibers” with these findings. Prednisolone dose was decreased and methotrexate (250 mcg/kg/week) was added to treatment. With recent therapy her complaints decreased dramatically. She has been well now for 3 years after diagnosis. The COX negativity and the presence of blue fiber in combined SDH-COX
G.P.76 Juvenile dermatomyositis involving large muscle infarction in three cases R. Koichihara 1, H. Komaki 1, A. Ishiyama 1, Y.K. Hayashi 2, R.S. Tsuburaya 3, T. Saito 1, Y. Saito 1, E. Nakagawa 1, K. Sugai 1, M. Sasaki 1, I. Nonaka 3, I. Nishino 3 1 National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; 2 Tokyo Medical University, Tokyo, Japan; 3 National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan On the muscle pathology of juvenile dermatomyositis (JDM), the muscle fibers show necrosis often in a part of a muscle fascicle, but rare in large region. We present peculiar muscle pathological findings in three patients suggesting large muscle infarction extending several fascicles with inflammatory changes. We investigated if there were some similarities among the three cases in clinical characteristics and pathlogies. Patient 1, 2 year-old female visited a hospital in November 2012 because of persistent fever, fatigue, weight loss and striae exanthema after having a cold. Elevations of ESR, ferritin, sIL-2R, FDP, ALD, KL-6 and anti CADM-140 antibody were detected. Interstitial lung disease resistant to immune therapies was rapidly progressed and died from respiratory failure. She was diagnosed with JDM because of muscle fiber necrosis of large area with thicken wall of middle sized arteries. Patient 2, aged 4, female presented in November 2012 with fever, fatigue and arthralgia and muscular pain of lower legs. The levels of CK, ESR, sIL-2R and FDP were elevated, however specific autoantibody was not detected. She recovered by methylprednisolone pulse and methotrexate therapies. Patient 3, 4 year-old female, after two months from the first symptom of photophobia, she was diagnosed JDM in November of 2012 due to fever, skin manifestations and muscle weakness. Elevations of CK, ESR, slL-2R and FDP without any specific autoantibodies were found. Treatment of methylprednisolone pulse and methotrexate were not effective. Common features of the three cases were female infant, acute or subacute onset of 2012 winter and high levels of inflammation and vasculitis markers. We suspect that obstruction of blood flow due to vasculitis is the cause for the large infarction. Some kind of natural immune response, such as viral infection, could contribute to develop JDM of infant whose immunoresponse is immature. http://dx.doi:10.1016/j.nmd.2014.06.090
G.P.77 The Lymphoid Follicle Variant of juvenile dermatomyositis J. Radke 1, D. Pehl 1, E. Aronica 2, D. Schonenberg-Meinema 2, U. Schneider 1, F.L. Heppner 1, M. de Visser 2, H.H. Goebel 1, W. Stenzel 1 1 Charite´, Berlin, Germany; 2 University of Amsterdam, Academic Medical Centre, Amsterdam, Netherlands Juvenile dermatomyositis (jDM) is an inflammatory disease that affects small vessels of the muscle, the skin, and other organs, which may lead to severe systemic disease. Muscle biopsy can help to secure a firm diagnosis and thus serve as an important adjunct to atypical clinical presentation. As previously suggested, ectopic lymphoid follicle-like structures (LFLS) in inflamed muscle could indicate a severe course of disease. Histological evaluation of frozen muscle samples was employed to visualize the
817
stains in inflammatory myopathy have been created some suspicions such as mitochondrial dysfunction may induce pathologic inflammatory response or an abnormal inflammatory response may be a contributory factor in mitochondrial dysfunction. http://dx.doi:10.1016/j.nmd.2014.06.089
G.P.74 Anti-Signal Recognition Particle associated myopathy in a multiethnic Malaysian population T. Ambang, J.S. Tan, T.E. Cheah, N. Shahrizaila, K.T. Wong, K.J. Goh University of Malaya, Kuala Lumpur, Malaysia Anti-Signal Recognition Particle (SRP) myopathy is a complement dependent antibody-mediated necrotising myopathy which is often clinically more severe and require longer and more aggressive immunosuppressive treatment. We describe a series of Malaysian patients with anti-SRP myopathy. Of 30 patients with idiopathic inflammatory myopathy, seen prospectively at the University of Malaya Medical Centre, Kuala Lumpur between 2012 and 2014, eight (26.7%) had positive anti-SRP antibodies. All patients were female, of whom four were ethnic Malays and four, ethnic Chinese. Their mean age of disease onset was 37 years (range 24–60 years). All presented with progressive severe proximal muscle weakness. Mean serum creatine kinase at presentation was 4994 u/L (range 385–14,000 iu/L). Muscle histopathology showed muscle fibre necrosis with variable regenerative features. Inflammation ranged from minimal to severe infiltration of lymphocytes in seven patients and in one patient, there was marked variation of fibre size with interstitial fibrosis, morphological features similar to that of muscular dystrophy. All patients responded only partially to corticosteroids and other immunosuppressive agents including methotrexate, mycophenolate mofetil, azathioprine and IVIG. Rituximab was given to one patient but with minimal improvement. Other associated autoantibodies found included anti Ro-52 in 50% and anti PM-Scl75 and anti PL-12 in 25% respectively. None had associated interstitial lung disease nor underlying malignancy. In prospective series inflammatory myopathy patients seen at a tertiary Malaysian hospital, anti-SRP myopathy was seen a quarter of the patients. The clinical picture was similar to anti-SRP myopathy reported from other populations. http://dx.doi:10.1016/j.nmd.2014.06.088
G.P.75 A rare inflammatory myopathy with cytochrome oxidase negative muscle fiber patient which presents in chidhood: Case report G. Diniz 1, O. Yavascan 2, Z. Yildirim 2, B. Sarkis 2, C. Alparslan 2, C. Ozturk 2 1 Izmir Neuromuscular Diseases’ Centre, Izmir, Turkey; 2 Tepecik Research Hospital, Izmir, Turkey We describe a 10-year old girl with progressive lower limb weakness and myalgia. With increased serum muscle enzymes, erythrocyte sedimentation rate, proximal muscle weakness, and EMG findings, she was considered as an inflammatory myopathy. Oral prednisolone (2 mg/ kg/day) treatment was started. During clinical observation patient showed no response to treatment and muscle biopsy was performed. Muscle biopsy showed COX-negative fibers without discrete inflammatory infiltrates and necrotizing features. Mitochondrial DNA analysis did not reveal any mutation. The patient was diagnosed as “inflammatory myopathy with COX negative fibers” with these findings. Prednisolone dose was decreased and methotrexate (250 mcg/kg/week) was added to treatment. With recent therapy her complaints decreased dramatically. She has been well now for 3 years after diagnosis. The COX negativity and the presence of blue fiber in combined SDH-COX
G.P.76 Juvenile dermatomyositis involving large muscle infarction in three cases R. Koichihara 1, H. Komaki 1, A. Ishiyama 1, Y.K. Hayashi 2, R.S. Tsuburaya 3, T. Saito 1, Y. Saito 1, E. Nakagawa 1, K. Sugai 1, M. Sasaki 1, I. Nonaka 3, I. Nishino 3 1 National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan; 2 Tokyo Medical University, Tokyo, Japan; 3 National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan On the muscle pathology of juvenile dermatomyositis (JDM), the muscle fibers show necrosis often in a part of a muscle fascicle, but rare in large region. We present peculiar muscle pathological findings in three patients suggesting large muscle infarction extending several fascicles with inflammatory changes. We investigated if there were some similarities among the three cases in clinical characteristics and pathlogies. Patient 1, 2 year-old female visited a hospital in November 2012 because of persistent fever, fatigue, weight loss and striae exanthema after having a cold. Elevations of ESR, ferritin, sIL-2R, FDP, ALD, KL-6 and anti CADM-140 antibody were detected. Interstitial lung disease resistant to immune therapies was rapidly progressed and died from respiratory failure. She was diagnosed with JDM because of muscle fiber necrosis of large area with thicken wall of middle sized arteries. Patient 2, aged 4, female presented in November 2012 with fever, fatigue and arthralgia and muscular pain of lower legs. The levels of CK, ESR, sIL-2R and FDP were elevated, however specific autoantibody was not detected. She recovered by methylprednisolone pulse and methotrexate therapies. Patient 3, 4 year-old female, after two months from the first symptom of photophobia, she was diagnosed JDM in November of 2012 due to fever, skin manifestations and muscle weakness. Elevations of CK, ESR, slL-2R and FDP without any specific autoantibodies were found. Treatment of methylprednisolone pulse and methotrexate were not effective. Common features of the three cases were female infant, acute or subacute onset of 2012 winter and high levels of inflammation and vasculitis markers. We suspect that obstruction of blood flow due to vasculitis is the cause for the large infarction. Some kind of natural immune response, such as viral infection, could contribute to develop JDM of infant whose immunoresponse is immature. http://dx.doi:10.1016/j.nmd.2014.06.090
G.P.77 The Lymphoid Follicle Variant of juvenile dermatomyositis J. Radke 1, D. Pehl 1, E. Aronica 2, D. Schonenberg-Meinema 2, U. Schneider 1, F.L. Heppner 1, M. de Visser 2, H.H. Goebel 1, W. Stenzel 1 1 Charite´, Berlin, Germany; 2 University of Amsterdam, Academic Medical Centre, Amsterdam, Netherlands Juvenile dermatomyositis (jDM) is an inflammatory disease that affects small vessels of the muscle, the skin, and other organs, which may lead to severe systemic disease. Muscle biopsy can help to secure a firm diagnosis and thus serve as an important adjunct to atypical clinical presentation. As previously suggested, ectopic lymphoid follicle-like structures (LFLS) in inflamed muscle could indicate a severe course of disease. Histological evaluation of frozen muscle samples was employed to visualize the