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Granulomatous myositis with tongue involvement resembling amyotrophic lateral sclerosis
Society proceedings / Electroencephalogruphy and clinical Neurophysiology 98 (1996) 8P-40P
and dysphagia predominate, and significant limb weakness is an uncommon late fmding. In North America, most OPMD pedigrees am of French-Canadian descent, with ,s smaller cluster of Spanish descent in the southwestern United States. Further, a Russian-Jewish cluster has been well described in Uzbekistan and Israel. We report 3 non-French-Canadian families with OPMD and autosoma1 dominant inheritance. Affected ancestors were 19th and 20th century immigrants to the United States from Italy, Normandy, and Scotland. Muscle biopsy of the deltoid in the Italian proband showed rimmed vacuoles and atrophic fibers without fiber type grouping. The Norman proband had a muscle biopsy of the orbicularis oculi with the usual OPMD findings of rimmed vacuoles and fiber size variability. The OPMD gene has been localized to chromosome 14qI I. I - 13 in French-Canadian pedigrees. It is currently unclear if there is non-allelic heterogeneity in OPMD. Linkage analysis of our sporadic pedigrees is currently in progress to resolve this question. United States clinicians should be aware of sporadic non-French or non-Spanish cohorts of OPMD patients. Study supported by Muscular Dystrophy Association Grant. 45. Colchicine myopathy presenting with normal creatine phosphokinase levels. - I-I.Kesserwani and D.A. Gelber (Springfield Illinois University School of Medicine, Sprlngfreld, IL) Introduction: Because colchi~cinemyopathy is often reversible, establishing the diagnosis is critical. The decision to obtain a muscle biopsy is often based on an elevated creatine phosphokinase (CPK) level. In colchicine myopathy, CPK is uslually markedly elevated. Objective: To demonstrate a case of colchicine myopathy presenting with a normal CPK level. Methods: A 6l-year-old man with chronic renal failure, treated with colchicine for 5 years of gout, presented with a 3 week history of proximal arm and leg weakness and inability to walk. Evaluation included laboratory studies, electromyography, and muscle biopsy. Results: Examination revealed marked weakness of the proximal upper and lower extremities. Laboratory studies included an elevated blood urea nitrogen and cteatinine, normal CPK (161 IU), and normal aldolase (3.1 Ill). Electromyography showed small polyphasic motor units in proximal muscles. Muscle biopsy, including electron microscopy, revealed a vacuolar myopathy with numerous autophagic vacuoles, characteristic of colchicine myopathy. Within I week of colchicine withdrawal patient’s strength improved by l-2 grades and he regained the ability to walk. Conclusions: Although CPK is usually markedly elevated in colchicine myopathy, this case demonstrates that CPK may be normal even when there is significant weakness and supports the need for muscle biopsy to establish the diagnosis. 46. Granulomatous myositis with tongue involvement resembling amyotrophic lateral sclerosis. - A.U. Khan and T.E. Bertorini (University of Tennessee, Memphis, TN) A 64.year-old female patient developed difficulty swallowing and talking and a weak tongue. An ENT specialist performed a tongue biopsy which showed inflammation and necrosis. Three years previously, a work-up for gastrointestinal bleeding revealed a non-caseating granuloma of the liver without organisms. She was referred because of muscle weakness. Chest roentgenogram and angiotensin converting enzyme levels were normal. Examination revealed normal cranial nerves, except for a weak tongue, and proximal weakness without fasciculations. Reflexes and sensation were normal. Creatine kinase was 3 times normal; FANA was l/320 with a nucleolar pattern. EMG showed frequent fibrillations and scattered polyphasic units with nonnal recruitment. A deltoid muscle biopsy revealed a granulomatous myositis. She responded to steroids which were tapered, and methotrexate was add.ed due to complications; she was stable for 7 years.
17P
Although this case resembled motor neuron disease, the diagnosis of granulomatous myositis is a treatable condition that should be considered in the differential diagnosis of similar presentations. 47. Stiff-man syndrome, immunoglobulin therapy in seronegative glutamic acid decarboxylase antibodies. - G.R. Hayat and S. Cruz-Flores (Saint Louis University, St. Louis, MO) Objective: Probable autoimmunity pathogenesis in stiff-man syndrome (SMS) treated successfully with gamma-globulin therapy. Background: There is evidence indicating that autoimmune patbogenesis in about 60% of patients with SMS have antibodies against glutamic acid decarboxylase (anti-GAD). Plasmapheresis and immunotherapy provide varying degrees of improvement. Case history: A 70.year-old woman presented with a 20 year history of painful muscle spasms, especially in axial distribution, and rigidity. She had been on valproic acid, baclofen and diazepsm with poor response. The patient had type II diabetes mellitus. Her physical examination demonstrated a bedridden patient with diffuse rigidity and frequent muscle spasms. Results: Laboratory work-up revealed normal chemistry and cerebrospinal fluid examination. Antithyroid microsomal antibodies 10.7 p/ml ( < I p/ml), antithyroglobulin antibodies 4.9 p/ml (< I p/ml), antinuclear antibody I:80 with speckled pattern, antislet cell antibodies IgG 40 JDF units f< 5 JDF units) and anti-GAD antibodies were negative. Intrathecal baclofen was unsuccessful. The patient showed significant improvement with IVIg therapy and was able to walk unassisted. Conclusions: Autoimmunity is advocated as an etiology in SMS. Our patient responded well to the IVIg despite a negative titer for anti-GAD antibodies. This fact supports the autoimmune etiology but questions whether GAD antibodies play a role in every patient. 48. Congestive heart failure as an initial manifestation of polymyositis. - TJ. Moskowitz, S.J. Oh, G.C. Claussen and J.A. Brooks (University of Alabama at Birmingham, Birmingham, AL) Introduction: Few cases of polymyositis involving myocardium were published until the 1970s. Even fewer cases of prominent or isolated cardiac symptoms at the time of presentation have been reported. Objective: Two cases of polymyositis in which cardiomyopathy was the predominant early feature were reviewed to identify cardinal features of the condition. Methods: The records of 2 patients who presented with congestive heart failure and whose EMG and muscle biopsy confirmed polymyositis were reviewed. Results: Two patients (aged 37 and 41 years) were evaluated for cardiac symptoms and diagnosed with polymyositis. One patient presented with dyspnea and tachycardia, the other with edema and syncope. Both had mild proximal limb weakness beginning shortly before their acute presentation and elevated creatine phosphokinase (13,154 and 5420 U/l) and erythrocyte sedimentation rate (72 and 59). One patient had transient right bundle branch block, the other was diagnosed with dilated cardiomyopathy. There was evidence of active myopathy on EMG in both. Biopsy showed definite endomysial inflammatory cells in 1 patient and many fibers undergoing basophilic regeneration were noted in both. Conclusion: Congestive heart failure can be an initial manifestation of polymyositis. 49. Lipid-lowering agent associated mitochondrial myopathy. - G.C. Claussen, SJ. Oh and S. Cichy (University of Alabama at Birmingham, Birmingham, AL) Myopathy and drug-induced rhabdomyolysis have been associated with lipid-lowering agents including lovastatin, gemtibrozil, simvastatin, clofibrate, and nicotinic acid. This is the first case, to our knowledge, in which myotoxicity occurred with the successive use of multiple lipid-
and dysphagia predominate, and significant limb weakness is an uncommon late fmding. In North America, most OPMD pedigrees am of French-Canadian descent, with ,s smaller cluster of Spanish descent in the southwestern United States. Further, a Russian-Jewish cluster has been well described in Uzbekistan and Israel. We report 3 non-French-Canadian families with OPMD and autosoma1 dominant inheritance. Affected ancestors were 19th and 20th century immigrants to the United States from Italy, Normandy, and Scotland. Muscle biopsy of the deltoid in the Italian proband showed rimmed vacuoles and atrophic fibers without fiber type grouping. The Norman proband had a muscle biopsy of the orbicularis oculi with the usual OPMD findings of rimmed vacuoles and fiber size variability. The OPMD gene has been localized to chromosome 14qI I. I - 13 in French-Canadian pedigrees. It is currently unclear if there is non-allelic heterogeneity in OPMD. Linkage analysis of our sporadic pedigrees is currently in progress to resolve this question. United States clinicians should be aware of sporadic non-French or non-Spanish cohorts of OPMD patients. Study supported by Muscular Dystrophy Association Grant. 45. Colchicine myopathy presenting with normal creatine phosphokinase levels. - I-I.Kesserwani and D.A. Gelber (Springfield Illinois University School of Medicine, Sprlngfreld, IL) Introduction: Because colchi~cinemyopathy is often reversible, establishing the diagnosis is critical. The decision to obtain a muscle biopsy is often based on an elevated creatine phosphokinase (CPK) level. In colchicine myopathy, CPK is uslually markedly elevated. Objective: To demonstrate a case of colchicine myopathy presenting with a normal CPK level. Methods: A 6l-year-old man with chronic renal failure, treated with colchicine for 5 years of gout, presented with a 3 week history of proximal arm and leg weakness and inability to walk. Evaluation included laboratory studies, electromyography, and muscle biopsy. Results: Examination revealed marked weakness of the proximal upper and lower extremities. Laboratory studies included an elevated blood urea nitrogen and cteatinine, normal CPK (161 IU), and normal aldolase (3.1 Ill). Electromyography showed small polyphasic motor units in proximal muscles. Muscle biopsy, including electron microscopy, revealed a vacuolar myopathy with numerous autophagic vacuoles, characteristic of colchicine myopathy. Within I week of colchicine withdrawal patient’s strength improved by l-2 grades and he regained the ability to walk. Conclusions: Although CPK is usually markedly elevated in colchicine myopathy, this case demonstrates that CPK may be normal even when there is significant weakness and supports the need for muscle biopsy to establish the diagnosis. 46. Granulomatous myositis with tongue involvement resembling amyotrophic lateral sclerosis. - A.U. Khan and T.E. Bertorini (University of Tennessee, Memphis, TN) A 64.year-old female patient developed difficulty swallowing and talking and a weak tongue. An ENT specialist performed a tongue biopsy which showed inflammation and necrosis. Three years previously, a work-up for gastrointestinal bleeding revealed a non-caseating granuloma of the liver without organisms. She was referred because of muscle weakness. Chest roentgenogram and angiotensin converting enzyme levels were normal. Examination revealed normal cranial nerves, except for a weak tongue, and proximal weakness without fasciculations. Reflexes and sensation were normal. Creatine kinase was 3 times normal; FANA was l/320 with a nucleolar pattern. EMG showed frequent fibrillations and scattered polyphasic units with nonnal recruitment. A deltoid muscle biopsy revealed a granulomatous myositis. She responded to steroids which were tapered, and methotrexate was add.ed due to complications; she was stable for 7 years.
17P
Although this case resembled motor neuron disease, the diagnosis of granulomatous myositis is a treatable condition that should be considered in the differential diagnosis of similar presentations. 47. Stiff-man syndrome, immunoglobulin therapy in seronegative glutamic acid decarboxylase antibodies. - G.R. Hayat and S. Cruz-Flores (Saint Louis University, St. Louis, MO) Objective: Probable autoimmunity pathogenesis in stiff-man syndrome (SMS) treated successfully with gamma-globulin therapy. Background: There is evidence indicating that autoimmune patbogenesis in about 60% of patients with SMS have antibodies against glutamic acid decarboxylase (anti-GAD). Plasmapheresis and immunotherapy provide varying degrees of improvement. Case history: A 70.year-old woman presented with a 20 year history of painful muscle spasms, especially in axial distribution, and rigidity. She had been on valproic acid, baclofen and diazepsm with poor response. The patient had type II diabetes mellitus. Her physical examination demonstrated a bedridden patient with diffuse rigidity and frequent muscle spasms. Results: Laboratory work-up revealed normal chemistry and cerebrospinal fluid examination. Antithyroid microsomal antibodies 10.7 p/ml ( < I p/ml), antithyroglobulin antibodies 4.9 p/ml (< I p/ml), antinuclear antibody I:80 with speckled pattern, antislet cell antibodies IgG 40 JDF units f< 5 JDF units) and anti-GAD antibodies were negative. Intrathecal baclofen was unsuccessful. The patient showed significant improvement with IVIg therapy and was able to walk unassisted. Conclusions: Autoimmunity is advocated as an etiology in SMS. Our patient responded well to the IVIg despite a negative titer for anti-GAD antibodies. This fact supports the autoimmune etiology but questions whether GAD antibodies play a role in every patient. 48. Congestive heart failure as an initial manifestation of polymyositis. - TJ. Moskowitz, S.J. Oh, G.C. Claussen and J.A. Brooks (University of Alabama at Birmingham, Birmingham, AL) Introduction: Few cases of polymyositis involving myocardium were published until the 1970s. Even fewer cases of prominent or isolated cardiac symptoms at the time of presentation have been reported. Objective: Two cases of polymyositis in which cardiomyopathy was the predominant early feature were reviewed to identify cardinal features of the condition. Methods: The records of 2 patients who presented with congestive heart failure and whose EMG and muscle biopsy confirmed polymyositis were reviewed. Results: Two patients (aged 37 and 41 years) were evaluated for cardiac symptoms and diagnosed with polymyositis. One patient presented with dyspnea and tachycardia, the other with edema and syncope. Both had mild proximal limb weakness beginning shortly before their acute presentation and elevated creatine phosphokinase (13,154 and 5420 U/l) and erythrocyte sedimentation rate (72 and 59). One patient had transient right bundle branch block, the other was diagnosed with dilated cardiomyopathy. There was evidence of active myopathy on EMG in both. Biopsy showed definite endomysial inflammatory cells in 1 patient and many fibers undergoing basophilic regeneration were noted in both. Conclusion: Congestive heart failure can be an initial manifestation of polymyositis. 49. Lipid-lowering agent associated mitochondrial myopathy. - G.C. Claussen, SJ. Oh and S. Cichy (University of Alabama at Birmingham, Birmingham, AL) Myopathy and drug-induced rhabdomyolysis have been associated with lipid-lowering agents including lovastatin, gemtibrozil, simvastatin, clofibrate, and nicotinic acid. This is the first case, to our knowledge, in which myotoxicity occurred with the successive use of multiple lipid-