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G.P.17.07 Acquired focal rippling muscle syndrome (RMS)
656
Abstracts / Neuromuscular Disorders 19 (2009) 543–660
G.P.17.05 Creatine kinase (CK) in a normal population: Towards new referent values? H. Lilleng1, S.H. Johnsen 1, E. Stensland 1, K. Abeler 2, S. Løseth 1, R. Jorde 1, Y. Figenschau 1, S. Lindal 1, S.I. Bekkelund 1 1
University Hospital of North Norway and University of Tromsø, Tromsø, Norway, 2 University Hospital of North Norway, Tromsø, Norway Background: The reference intervals for CK developed by Scandinavian Society of Clinical Chemistry are based on 3035 Scandinavians aged > 18 years. Using nonparametric statistics, abnormal limits are defined outside the 2.5 and 97.5% percentiles. Upper limits are 210 UL in women, 400 UL in men < 50 years, and 280 UL in men P 50 years. The purpose of our study was to assess the prevalence of hyperCKemia in a normal population. We also compared the proportion of hyperCKemia with present cut-off values. Method: All results were collected from the 6th survey of The Tromsø Study from October 2007 to December 2008. Results: CK was measured in 12,828 individuals, aged 30–87 years. Of them were 6834 women, 1855 were men < 50 years of age, and 4139 men P 50 years. Median CK in women was 84 UL (range 10–3046), in men < 50 years 131 UL (range 25–15,941), and 119 UL (range 12–2452) in men P 50 years. In the female group 295 (4.3%) had hyperCKemia. Among men < 50 years 74 (4.0%) had hyperCKemia, and in men P 50 years 317 (7.7%). Four men aged 33, 34, 41 and 43 years had CK > 5000. The values were 5660 UL, 8079 UL, 12,022 UL and 15,941 UL, respectively, but all normalized after one control analyses. The data presented are not adjusted for physical activity, use of medication or other conditions known to influence the CK levels. Conclusion: In this normal population 4.0–7.7% had hyperCKemia. Men, especially the youngest, had higher median CK values and larger range than women. Whether the relatively high prevalence of hyperCKemia represents normal variation or reflects subclinical disorders will be explored. Our findings also question the need for new reference values for CK in a normal population. doi:10.1016/j.nmd.2009.06.346
G.P.17.06 Axial localized unilateral muscle hypertrophy combined with paraspinal atrophy: An unusual case F.X.G. Glocker 1, J.K. Kirschner 2, G.M. Meng 3, M.K. Kottlors1 Seidel-Klinik, Bad Bellingen, Germany, 2 Division of Neuropediatrics and Muscle Disorders, University Children’s Hospital, Freiburg, Germany, 3 Institute of Human Genetics, University of Würzburg, Würzburg, Germany 1
Case: Localized hypertrophy of the muscle is a rare disease in which usually focal myositis or a rhabdomyosarcoma is suspected. We report on a 49-year-old woman who had a history of lower back pain on the right side 2 years earlier. On physical examination, a soft unilateral swelling of the thoracolumbar region and mild paraspinal atrophy could be detected. There was no further weakness of the facial, proximal or distal muscles, especially no axial weakness or camptocormia. Concentric needle examination disclosed abnormal spontaneous activity, fibrillations and small polyphasic potentials in the paraspinal muscles and the hypertrophic muscle, but no changes in the muscles of the limbs. CPK level was elevated to 424 U/L. Cerebral spinal fluid analysis showed a normal cell count and protein content. An MRI of the lumbar and thoracal spine revealed a marked hypertrophy of the quadratus lumborum muscle on the right side without gadolinium enhancement. Axial T1-weighted images showed high signal intensity within the thoracolumbar paraspinal muscles on both sides corre-
sponding to fatty infiltration and atrophy. DNA testing revealed no contraction of restriction fragments of the D4Z4-repeat. Muscle biopsy taken from the hypertrophic quadratus lumborum muscle and the vastus lateralis muscle was taken. The patient suffered from no other diseases and family history revealed no neuromuscular diseases. Conclusions: Localized muscle hypertrophy is known in muscular dystrophies and unilateral muscle hypertrophy have been reported in spinal muscular atrophy, post-radiation neuropathies, in spinal stenosis, in intraspinal neurinoma, in sciatic nerve lesion, myositis ossificans progressiva and fascial compartment syndrome. The presented case shows that in case of localized muscle hypertrophy even without any muscular weakness further examination should be performed to integrate the localized muscle hypertrophy into the diagnosis of a generalized muscle disease. doi:10.1016/j.nmd.2009.06.347
G.P.17.07 Acquired focal rippling muscle syndrome (RMS) A. Magot1, G. Fayet 1, A. Terrier 1, P. Chevallier 2, Y. Pereon 1 1
Center for neuromuscular diseases, Nantes, France, haematology, Nantes, France
2
Department of
Introduction: Rippling muscle phenomenon is characterized by transitory mounding and involuntary rolling contractions. It is commonly described in inherited caveolinopathies but rarely reported in acquired forms. Case report: A 76-year-old man presented a history of surgery for lumbar foraminal stenosis and was treated by simvastatin (40 mg/day) for angina pectoris. In 2007, the patient presented with a right sciatica related to a L4-L5 discal hernia. A right residual L5 motor deficit and thigh atrophy were observed. He also had ataxia and absent deep tendon reflexes in the lower limbs. At that time, a B cell-chronic lymphoid leukaemia was discovered without tumoral syndrome. A monoclonal gammathy (IgM) associated with anti myelin associated glycoprotein (MAG) antibodies was detected. Nerve conduction studies confirmed a light demyelinating polyneuropathy. One year later, the ataxia worsened and he complained of muscle stiffness without myalgia. Examination showed spontaneous muscle movements in the proximal muscles, especially quadriceps, hip adductors, gastrocnemius and deltoid, but sparing the right tibialis. Percussion-induced rapid muscles contractions and focal mounding were noticed. Serum CK was normal. Surface electrode EMG revealed spontaneous muscle activity looking like brief discharges during the mounding while needle concentric EMG showed neither myotonic nor unit motor potentials discharges. Sustained pseudomyotonic discharges and brief, polyphasic and small potentials were noticed in the right hip adductors. Simvastatin was interrupted. RMS did not abate completely and remained markedly focused to the right thigh. Discussion: RMS is likely related to both chronic leukaemia and anti-MAG neuropathy due to some autoimmune mechanisms. It may have been increased by statin exposure. The different electrophysiological pattern associated with the location in chronically denervated muscles suggest a continuum of neuromuscular hyperexcitabilility in acquired RMS. doi:10.1016/j.nmd.2009.06.348
G.P.17.08 A case report of reversible hydroxychloroquine cardiomyopathy and myopathy J.B. Sampson1, G. Kunkel 2, S. Chin 3, K.M. Flanigan 1 1
University of Utah, Department of Neurology, Salt Lake City, United States, 2 University of Utah, Department of Rheumatology, Salt Lake City,
Abstracts / Neuromuscular Disorders 19 (2009) 543–660
G.P.17.05 Creatine kinase (CK) in a normal population: Towards new referent values? H. Lilleng1, S.H. Johnsen 1, E. Stensland 1, K. Abeler 2, S. Løseth 1, R. Jorde 1, Y. Figenschau 1, S. Lindal 1, S.I. Bekkelund 1 1
University Hospital of North Norway and University of Tromsø, Tromsø, Norway, 2 University Hospital of North Norway, Tromsø, Norway Background: The reference intervals for CK developed by Scandinavian Society of Clinical Chemistry are based on 3035 Scandinavians aged > 18 years. Using nonparametric statistics, abnormal limits are defined outside the 2.5 and 97.5% percentiles. Upper limits are 210 UL in women, 400 UL in men < 50 years, and 280 UL in men P 50 years. The purpose of our study was to assess the prevalence of hyperCKemia in a normal population. We also compared the proportion of hyperCKemia with present cut-off values. Method: All results were collected from the 6th survey of The Tromsø Study from October 2007 to December 2008. Results: CK was measured in 12,828 individuals, aged 30–87 years. Of them were 6834 women, 1855 were men < 50 years of age, and 4139 men P 50 years. Median CK in women was 84 UL (range 10–3046), in men < 50 years 131 UL (range 25–15,941), and 119 UL (range 12–2452) in men P 50 years. In the female group 295 (4.3%) had hyperCKemia. Among men < 50 years 74 (4.0%) had hyperCKemia, and in men P 50 years 317 (7.7%). Four men aged 33, 34, 41 and 43 years had CK > 5000. The values were 5660 UL, 8079 UL, 12,022 UL and 15,941 UL, respectively, but all normalized after one control analyses. The data presented are not adjusted for physical activity, use of medication or other conditions known to influence the CK levels. Conclusion: In this normal population 4.0–7.7% had hyperCKemia. Men, especially the youngest, had higher median CK values and larger range than women. Whether the relatively high prevalence of hyperCKemia represents normal variation or reflects subclinical disorders will be explored. Our findings also question the need for new reference values for CK in a normal population. doi:10.1016/j.nmd.2009.06.346
G.P.17.06 Axial localized unilateral muscle hypertrophy combined with paraspinal atrophy: An unusual case F.X.G. Glocker 1, J.K. Kirschner 2, G.M. Meng 3, M.K. Kottlors1 Seidel-Klinik, Bad Bellingen, Germany, 2 Division of Neuropediatrics and Muscle Disorders, University Children’s Hospital, Freiburg, Germany, 3 Institute of Human Genetics, University of Würzburg, Würzburg, Germany 1
Case: Localized hypertrophy of the muscle is a rare disease in which usually focal myositis or a rhabdomyosarcoma is suspected. We report on a 49-year-old woman who had a history of lower back pain on the right side 2 years earlier. On physical examination, a soft unilateral swelling of the thoracolumbar region and mild paraspinal atrophy could be detected. There was no further weakness of the facial, proximal or distal muscles, especially no axial weakness or camptocormia. Concentric needle examination disclosed abnormal spontaneous activity, fibrillations and small polyphasic potentials in the paraspinal muscles and the hypertrophic muscle, but no changes in the muscles of the limbs. CPK level was elevated to 424 U/L. Cerebral spinal fluid analysis showed a normal cell count and protein content. An MRI of the lumbar and thoracal spine revealed a marked hypertrophy of the quadratus lumborum muscle on the right side without gadolinium enhancement. Axial T1-weighted images showed high signal intensity within the thoracolumbar paraspinal muscles on both sides corre-
sponding to fatty infiltration and atrophy. DNA testing revealed no contraction of restriction fragments of the D4Z4-repeat. Muscle biopsy taken from the hypertrophic quadratus lumborum muscle and the vastus lateralis muscle was taken. The patient suffered from no other diseases and family history revealed no neuromuscular diseases. Conclusions: Localized muscle hypertrophy is known in muscular dystrophies and unilateral muscle hypertrophy have been reported in spinal muscular atrophy, post-radiation neuropathies, in spinal stenosis, in intraspinal neurinoma, in sciatic nerve lesion, myositis ossificans progressiva and fascial compartment syndrome. The presented case shows that in case of localized muscle hypertrophy even without any muscular weakness further examination should be performed to integrate the localized muscle hypertrophy into the diagnosis of a generalized muscle disease. doi:10.1016/j.nmd.2009.06.347
G.P.17.07 Acquired focal rippling muscle syndrome (RMS) A. Magot1, G. Fayet 1, A. Terrier 1, P. Chevallier 2, Y. Pereon 1 1
Center for neuromuscular diseases, Nantes, France, haematology, Nantes, France
2
Department of
Introduction: Rippling muscle phenomenon is characterized by transitory mounding and involuntary rolling contractions. It is commonly described in inherited caveolinopathies but rarely reported in acquired forms. Case report: A 76-year-old man presented a history of surgery for lumbar foraminal stenosis and was treated by simvastatin (40 mg/day) for angina pectoris. In 2007, the patient presented with a right sciatica related to a L4-L5 discal hernia. A right residual L5 motor deficit and thigh atrophy were observed. He also had ataxia and absent deep tendon reflexes in the lower limbs. At that time, a B cell-chronic lymphoid leukaemia was discovered without tumoral syndrome. A monoclonal gammathy (IgM) associated with anti myelin associated glycoprotein (MAG) antibodies was detected. Nerve conduction studies confirmed a light demyelinating polyneuropathy. One year later, the ataxia worsened and he complained of muscle stiffness without myalgia. Examination showed spontaneous muscle movements in the proximal muscles, especially quadriceps, hip adductors, gastrocnemius and deltoid, but sparing the right tibialis. Percussion-induced rapid muscles contractions and focal mounding were noticed. Serum CK was normal. Surface electrode EMG revealed spontaneous muscle activity looking like brief discharges during the mounding while needle concentric EMG showed neither myotonic nor unit motor potentials discharges. Sustained pseudomyotonic discharges and brief, polyphasic and small potentials were noticed in the right hip adductors. Simvastatin was interrupted. RMS did not abate completely and remained markedly focused to the right thigh. Discussion: RMS is likely related to both chronic leukaemia and anti-MAG neuropathy due to some autoimmune mechanisms. It may have been increased by statin exposure. The different electrophysiological pattern associated with the location in chronically denervated muscles suggest a continuum of neuromuscular hyperexcitabilility in acquired RMS. doi:10.1016/j.nmd.2009.06.348
G.P.17.08 A case report of reversible hydroxychloroquine cardiomyopathy and myopathy J.B. Sampson1, G. Kunkel 2, S. Chin 3, K.M. Flanigan 1 1
University of Utah, Department of Neurology, Salt Lake City, United States, 2 University of Utah, Department of Rheumatology, Salt Lake City,