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P.14.3 Dermatomyositis in a patient with Behcet’s disease
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Abstracts / Neuromuscular Disorders 23 (2013) 738–852
athy. During follow-up (mean 44.2 months), 5 patients have been admitted in intensive care unit for an acute respiratory failure and 2 patients died, from respiratory cause (n = 1) and infection (n = 1). One patient had a cavum carcinoma. MDA-5 positive DM patients have a homogeneous presentation. Muscular disease is not severe whereas extra-muscular involvement is at the foreground lesions and may lead to life threatening complications. http://dx.doi:10.1016/j.nmd.2013.06.610
P.14.3 Dermatomyositis in a patient with Behcet’s disease H. Karasoy, O. Ekmekcßi, A.N. Yuceyar Ege University Medical School Hospital, Neurology, Bornova-Izmir, Turkey A case of dermatomyositis associated with Behcet’s disease (BD) is described. A 51-year-old male with a 12-year history of BD, was currently on remission with colchicine therapy (0.5 mg/day), presented with acute onset difficulty in walking and skin lesions. His neurological examination revealed proximal muscle weakness in both the upper and lower extremities. No myalgia was noted. He had cutaneous lesions typical for dermatomyositis on his face, neck, upper trunk and hands. Laboratory tests demonstrated normal findings except elevated ESR and serum CK level (639 U/ L). Muscle MRI of lower extremities revealed multiple patchy hyperintense lesions in pelvic and thigh muscles on STIR images. There was no muscle atrophy or fat replacement and it was commented as muscle inflammation. The clinical and laboratory findings were compatible with the diagnosis of dermatomyositis. He responded well to IV methylprednisolone within days. He continued on prednisolone therapy orally with gradual tapering. This case of Behcet’s disease associated with dermatomyositis (DM) is a very rare one. Muscular involvement in BD is rarely described but DM in association with BD has been never reported. The underlying cause of BD and the precise pathogenic mechanisms responsible for DM are unknown. The association of BD and DM may provide insights into genetic predisposition and pathogenesis of these complex and multisystemic autoimmune disorders. http://dx.doi:10.1016/j.nmd.2013.06.611
P.14.4 Diagnostic role of quantitative NMR imaging exemplified by 3 cases of juvenile dermatomyositis P.G. Carlier 1, N. Azzabou 1, P. Loureiro de Sousa 1, B. Florkin 2, E. Deprez 3, N.B. Romero 4, S. Denis 5, V. Decostre 6, L. Servais 7 1 AIM-CEA, Institut de Myologie, Laboratoire RMN, Paris, France; 2 CHR La Citadelle, Service de Pe´diatrie, Lie`ge, Belgium; 3 CHU de Lie`ge, Service d’anatomie pathologique, Lie`ge, Belgium; 4 AIM, Institut de Myologie, Laboratoire d’histopathologie, Paris, France; 5 Centre de re´fe´rence des maladies neuromusculaires, CHR La Citadelle, Lie`ge, Belgium; 6 AIM, Institut de Myologie, Laboratoire de physiologie et d’e´valuation neuromusculaire, Paris, France; 7 AIM, Service Essais Cliniques et Bases de Donne´es, Paris, France Skeletal muscle diagnostic imaging is classically based on visual inspection of T1-weighted NMR images and interpretation of patterns of fatty infiltration. The existence of oedematous/inflammatory/necrotic lesions is subjectively appreciated on T2-weighted images, typically acquired with the STIR sequence to minimize fat confounding effects. Because it relies on identification of hyperintensities between and within muscles, the interpretation risk with T2-weighted images is to miss global, homogenous increases in T2. In this report, we demonstrate this concern to be more than theoretical. Three patients aged 6, 7 and 12 were referred for further
investigation of progressive muscle wasting (P1) or clinical suspicion of dermatomyositis (P2, P3). All of them had normal CK values. Wholebody T1w showed no fatty infiltration in muscles. Standard T2w imaging was normal in P1, showed discrete differences in signal intensity, particularly between anterior and posterior leg compartments in P2 and was moderately positive with hyperintense streaks in P3. Quantitative T2 maps were obtained from multi TE spin echo data after extraction of the water component by tri-exponential fitting. In the 3 patients, muscle water T2s were abnormally elevated in the scapular and pelvic girdles, the thighs and the legs: 45/51 muscles of P1, 46/60 of P2 and 47/51 of P3 had T2s higher than 39 ms, the upper normal value. Mean T2s were 42.3, 42.3 and 45.9 ms, with highest T2s measured at 50.0, 51.9 and 53.3 ms in P1, P2 and P3 respectively. Juvenile dermatomyositis was histologically confirmed in all patients. After 3 months on steroid, P1 was rescanned. In the previously inflamed muscles, T2 had on average decreased by 3.4 ms (p < 0.001) and 17 muscles had resumed normal T2 values. Quantitative T2 mapping can be required to detect unambiguously muscle lesions as shown here in juvenile dermatomyositis. It is also essential to monitor response to treatment in the absence of biological biomarkers. http://dx.doi:10.1016/j.nmd.2013.06.612
P.14.5 Antibodies against TIF1-gamma in cancer associated myositis may precede cancer symptoms and persist after cancer removal I.E. Lundberg 1, L. Dani 1, M. Dastmalchi 1, M.A. Martı´nez 2, M. Labrador-Horrillo 2, A. Selva O’Callaghan 3 1 Karolinska Institutet, Rheumatogy Unit, Department of Medicine, Karolinska University Hospital, Solna SE-17176, Sweden; 2 Sant Pau Hospital, Barcelona, Spain; 3 Vall d’Hebron General Hospital, Barcelona, Spain Antibodies against TIF1-gamma have been detected in patients with cancer associated myositis (CAM) but it is not known whether the antibodies precede the diagnosis of cancer or if the antibodies persist after successful treatment of a malignancy. To analyse levels of TIF1-gamma antibodies in longitudinally collected sera taken before cancer diagnosis and after treatment of the malignancy in patients with CAM. Serum samples and clinical data were available from 54 patients with CAM. Serum levels of anti-TIF1gamma antibody were tested by ELISA using a commercially available purified recombinant protein (OriGene, Rockville, MD). Sera from 16 (29.6%) patients were positive for anti-TIF1-gamma antibodies in at least one serum sample. Of the 16 positive patients 12 had developed cancer within 3 years from myositis diagnosis, 4 after 3 years. Serum samples taken before cancer diagnosis were available from 15/54 patients and four of them were positive for anti-TIF1-gamma. One of these patients had detectable anti-TIF1gamma antibodies up to 5 years before cancer diagnosis. Of the 16 patients positive for anti-TIF1-gamma, 12 patients had died at time of our study, 7 within 1 year from cancer diagnosis. The 7 patients who died within one year had a mean antibody level of 1976 ± 304 au, the 5 patients who died after more than 1 year had a mean antibody level of 1036 ± 555 au (p = 0.003). Four patients were still alive at time of the investigation, between 2–13 years after cancer treatment. They were all in remission from cancer disease. Two patients became negative for anti-TIF1-gamma antibodies, these two patients were among the patients in remission at follow up. Anti-TIF1-gamma antibodies can be detected before cancer diagnosis and may thus become a helpful marker to alert for cancer in patients with myositis. The levels of anti-TIF1-gamma antibodies seem to be a prognostic marker for survival in CAM. http://dx.doi:10.1016/j.nmd.2013.06.613
Abstracts / Neuromuscular Disorders 23 (2013) 738–852
athy. During follow-up (mean 44.2 months), 5 patients have been admitted in intensive care unit for an acute respiratory failure and 2 patients died, from respiratory cause (n = 1) and infection (n = 1). One patient had a cavum carcinoma. MDA-5 positive DM patients have a homogeneous presentation. Muscular disease is not severe whereas extra-muscular involvement is at the foreground lesions and may lead to life threatening complications. http://dx.doi:10.1016/j.nmd.2013.06.610
P.14.3 Dermatomyositis in a patient with Behcet’s disease H. Karasoy, O. Ekmekcßi, A.N. Yuceyar Ege University Medical School Hospital, Neurology, Bornova-Izmir, Turkey A case of dermatomyositis associated with Behcet’s disease (BD) is described. A 51-year-old male with a 12-year history of BD, was currently on remission with colchicine therapy (0.5 mg/day), presented with acute onset difficulty in walking and skin lesions. His neurological examination revealed proximal muscle weakness in both the upper and lower extremities. No myalgia was noted. He had cutaneous lesions typical for dermatomyositis on his face, neck, upper trunk and hands. Laboratory tests demonstrated normal findings except elevated ESR and serum CK level (639 U/ L). Muscle MRI of lower extremities revealed multiple patchy hyperintense lesions in pelvic and thigh muscles on STIR images. There was no muscle atrophy or fat replacement and it was commented as muscle inflammation. The clinical and laboratory findings were compatible with the diagnosis of dermatomyositis. He responded well to IV methylprednisolone within days. He continued on prednisolone therapy orally with gradual tapering. This case of Behcet’s disease associated with dermatomyositis (DM) is a very rare one. Muscular involvement in BD is rarely described but DM in association with BD has been never reported. The underlying cause of BD and the precise pathogenic mechanisms responsible for DM are unknown. The association of BD and DM may provide insights into genetic predisposition and pathogenesis of these complex and multisystemic autoimmune disorders. http://dx.doi:10.1016/j.nmd.2013.06.611
P.14.4 Diagnostic role of quantitative NMR imaging exemplified by 3 cases of juvenile dermatomyositis P.G. Carlier 1, N. Azzabou 1, P. Loureiro de Sousa 1, B. Florkin 2, E. Deprez 3, N.B. Romero 4, S. Denis 5, V. Decostre 6, L. Servais 7 1 AIM-CEA, Institut de Myologie, Laboratoire RMN, Paris, France; 2 CHR La Citadelle, Service de Pe´diatrie, Lie`ge, Belgium; 3 CHU de Lie`ge, Service d’anatomie pathologique, Lie`ge, Belgium; 4 AIM, Institut de Myologie, Laboratoire d’histopathologie, Paris, France; 5 Centre de re´fe´rence des maladies neuromusculaires, CHR La Citadelle, Lie`ge, Belgium; 6 AIM, Institut de Myologie, Laboratoire de physiologie et d’e´valuation neuromusculaire, Paris, France; 7 AIM, Service Essais Cliniques et Bases de Donne´es, Paris, France Skeletal muscle diagnostic imaging is classically based on visual inspection of T1-weighted NMR images and interpretation of patterns of fatty infiltration. The existence of oedematous/inflammatory/necrotic lesions is subjectively appreciated on T2-weighted images, typically acquired with the STIR sequence to minimize fat confounding effects. Because it relies on identification of hyperintensities between and within muscles, the interpretation risk with T2-weighted images is to miss global, homogenous increases in T2. In this report, we demonstrate this concern to be more than theoretical. Three patients aged 6, 7 and 12 were referred for further
investigation of progressive muscle wasting (P1) or clinical suspicion of dermatomyositis (P2, P3). All of them had normal CK values. Wholebody T1w showed no fatty infiltration in muscles. Standard T2w imaging was normal in P1, showed discrete differences in signal intensity, particularly between anterior and posterior leg compartments in P2 and was moderately positive with hyperintense streaks in P3. Quantitative T2 maps were obtained from multi TE spin echo data after extraction of the water component by tri-exponential fitting. In the 3 patients, muscle water T2s were abnormally elevated in the scapular and pelvic girdles, the thighs and the legs: 45/51 muscles of P1, 46/60 of P2 and 47/51 of P3 had T2s higher than 39 ms, the upper normal value. Mean T2s were 42.3, 42.3 and 45.9 ms, with highest T2s measured at 50.0, 51.9 and 53.3 ms in P1, P2 and P3 respectively. Juvenile dermatomyositis was histologically confirmed in all patients. After 3 months on steroid, P1 was rescanned. In the previously inflamed muscles, T2 had on average decreased by 3.4 ms (p < 0.001) and 17 muscles had resumed normal T2 values. Quantitative T2 mapping can be required to detect unambiguously muscle lesions as shown here in juvenile dermatomyositis. It is also essential to monitor response to treatment in the absence of biological biomarkers. http://dx.doi:10.1016/j.nmd.2013.06.612
P.14.5 Antibodies against TIF1-gamma in cancer associated myositis may precede cancer symptoms and persist after cancer removal I.E. Lundberg 1, L. Dani 1, M. Dastmalchi 1, M.A. Martı´nez 2, M. Labrador-Horrillo 2, A. Selva O’Callaghan 3 1 Karolinska Institutet, Rheumatogy Unit, Department of Medicine, Karolinska University Hospital, Solna SE-17176, Sweden; 2 Sant Pau Hospital, Barcelona, Spain; 3 Vall d’Hebron General Hospital, Barcelona, Spain Antibodies against TIF1-gamma have been detected in patients with cancer associated myositis (CAM) but it is not known whether the antibodies precede the diagnosis of cancer or if the antibodies persist after successful treatment of a malignancy. To analyse levels of TIF1-gamma antibodies in longitudinally collected sera taken before cancer diagnosis and after treatment of the malignancy in patients with CAM. Serum samples and clinical data were available from 54 patients with CAM. Serum levels of anti-TIF1gamma antibody were tested by ELISA using a commercially available purified recombinant protein (OriGene, Rockville, MD). Sera from 16 (29.6%) patients were positive for anti-TIF1-gamma antibodies in at least one serum sample. Of the 16 positive patients 12 had developed cancer within 3 years from myositis diagnosis, 4 after 3 years. Serum samples taken before cancer diagnosis were available from 15/54 patients and four of them were positive for anti-TIF1-gamma. One of these patients had detectable anti-TIF1gamma antibodies up to 5 years before cancer diagnosis. Of the 16 patients positive for anti-TIF1-gamma, 12 patients had died at time of our study, 7 within 1 year from cancer diagnosis. The 7 patients who died within one year had a mean antibody level of 1976 ± 304 au, the 5 patients who died after more than 1 year had a mean antibody level of 1036 ± 555 au (p = 0.003). Four patients were still alive at time of the investigation, between 2–13 years after cancer treatment. They were all in remission from cancer disease. Two patients became negative for anti-TIF1-gamma antibodies, these two patients were among the patients in remission at follow up. Anti-TIF1-gamma antibodies can be detected before cancer diagnosis and may thus become a helpful marker to alert for cancer in patients with myositis. The levels of anti-TIF1-gamma antibodies seem to be a prognostic marker for survival in CAM. http://dx.doi:10.1016/j.nmd.2013.06.613