1/46. Muscle phosphofructokinase deficiency (Tarui's disease): report of a case.A 14-year-old girl had an acute episode of rhabdomyolysis after vigorous exercise and seizures. Laboratory studies revealed elevated creatine phosphokinase (CPK) activity and myoglobinuria without acute renal failure, as well as mild indirect hyperbilirubinemia, and hyperuricemia. The elevated CPK activity, mild indirect hyperbilirubinemia, and hyperuricemia persisted during a 10-month follow-up period, during which chronic hemolysis without overt anemia was also noted. A muscle biopsy specimen from the left biceps muscle revealed occasional muscle fiber necrosis and mild excess of glycogen accumulation on periodic acid-Schiff staining. Histochemical reactions were negative with phosphofructokinase (PFK) stain when fructose-6-phosphate was used as the substrate, but positive when fructose 1,6-bisphosphate was used as the substrate. These findings confirmed the diagnosis of muscle PFK deficiency (Tarui's disease), which is a defect of glycolysis in muscles and erythrocytes. Less than 40 such patients have been reported to date. When a specific metabolic myopathy is suspected in children with rhabdomyolysis, symptoms of hemolysis should also be sought to identify Tarui's disease. To the best of our knowledge, this is the first case of Tarui's disease identified in taiwan.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
2/46. rhabdomyolysis in association with Duchenne's muscular dystrophy.PURPOSE: To present a case of rhabdomyolysis which developed in a child with a known history of Duchenne's muscular dystrophy, following an anesthetic which included sevoflurane. CLINICAL FEATURES: An 11 yr old boy with a known history of Duchenne's muscular dystrophy underwent anesthesia for strabismus repair. The anesthetic consisted of sevoflurane and nitrous oxide without the use of a muscle relaxant. His postoperative course was complicated by a complaint of heel pain and the development of myoglobinuria. He was treated with dantrolene sodium and discharged home after two days, without further complication. CONCLUSION: Sevoflurane anesthesia has not been shown previously to be associated with the development of acute rhabdomyolysis in a child with a history of Duchenne's muscular dystrophy. As with halothane and isoflurane, the continued use of sevoflurane in the presence of Duchenne's muscular dystrophy should be questioned.- - - - - - - - - - ranking = 41.811299026168keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
3/46. Case of the month: February 1999--54 year old man with severe muscle weakness.A 54 year old man developed rhabdomyolysis one year after beginning treatment with a combination of lovastatin (an HMGCoA reductase inhibitor) and niacin. Muscle biopsy showed a severe necrotizing myopathy affecting both fibre types. Recovery occured gradually with cessation of medication. The spectrum of cholesterol lowering agent myopathy may include delayed cases of unusual severity.- - - - - - - - - - ranking = 2keywords = myopathy (Clic here for more details about this article) |
4/46. Noninvasive evaluation of adult onset myopathy from carnitine palmitoyl transferase II deficiency using proton magnetic resonance spectroscopy.OBJECTIVE: The adult onset metabolic myopathy of carnitine palmitoyl transferase II (CPT II) deficiency is under-recognized, in part due to variable degrees of enzyme deficiency and symptomatology, as well as limitations in means for noninvasive evaluation. We describe a proton magnetic resonance spectroscopy (MRS) technique, using a standard clinical magnetic resonance imaging scanner, to diagnose and help monitor the response to therapy in adult CPT II deficiency. methods: A 53-year-old woman presented with a long standing history of diffuse aching and fatigue provoked by high fat intake, fasting, or prolonged exertion. Muscle biopsy revealed myopathic features and a deficiency (33% of control) of CPT II activity with elevated palmitoyl carnitine. Proton MRS of the soleus muscle was performed using a 1.5 Tesla scanner before and during dietary therapy. RESULTS: Proton MRS revealed shortening of the transverse relaxation time (T2), consistent with increased acetylation of the carnitine pool. The symptoms resolved completely by treatment with frequent feedings of a high carbohydrate diet low in long chain fatty acids supplemented with medium chain triglycerides and L-carnitine. Recovery of normal muscle MRS and carnitine T2 relaxation was documented by the third month of therapy. CONCLUSION: Proton MRS is a novel, potentially useful, and readily available adjunct in the diagnosis and therapeutic monitoring of muscle CPT II deficiency.- - - - - - - - - - ranking = 5keywords = myopathy (Clic here for more details about this article) |
5/46. Acute alcoholic myopathy, rhabdomyolysis and acute renal failure: a case report.A case of middle aged male who developed swelling and weakness of muscles in the lower limbs following a heavy binge of alcohol is being reported. He had myoglobinuria and developed acute renal failure for which he was dialyzed. Acute alcoholic myopathy is not a well recognized condition and should be considered in any intoxicated patient who presents with muscle tenderness and weakness.- - - - - - - - - - ranking = 5keywords = myopathy (Clic here for more details about this article) |
6/46. myoglobinuria and transient acute renal failure in a patient revealing hypothyroidism.Muscle involvement in hypothyroidism commonly manifests as fatigue, myalgias, stiffness and slowed reflexes. We report a case of transient acute renal failure related to rhabdomyolysis and myoglobinuria in a 40 year old man that revealed the diagnosis of hypothyroidism with myopathy. The patient had proximal muscle weakness and tenderness, markedly raised muscle enzymes and deranged renal functions that normalised with thyroid replacement therapy. hypothyroidism, though rare, should be considered a definite and authentic cause of rhabdomyolysis.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
7/46. Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial dna.OBJECTIVE: To elucidate the molecular basis of a mitochondrial myopathy associated with recurrent myoglobinuria and cytochrome c oxidase (COX) deficiency in muscle. BACKGROUND: Recurrent myoglobinuria is typically seen in patients with inborn errors of carbohydrate or lipid metabolism, the main sources of energy for muscle contraction. Relatively little attention has been directed to defects of the mitochondrial respiratory chain in patients with otherwise unexplained recurrent myoglobinuria. methods: Having documented COX deficiency histochemically and biochemically in the muscle biopsy from a patient with exercise-induced recurrent myoglobinuria, the authors sequenced the three mitochondrial dna (mtDNA)-encoded COX genes, and performed restriction fragment length polymorphism analysis and single-fiber PCR. RESULTS: The authors identified a nonsense mutation (G5920A) in the COX I gene in muscle mtDNA. The mutation was heteroplasmic and abundantly present in COX-negative fibers, but less abundant or absent in COX-positive fibers; it was not found in blood or fibroblasts from the patient or in blood samples from the patient's asymptomatic mother and sister. CONCLUSIONS: The G5920A mutation caused COX deficiency in muscle, explaining the exercise intolerance and the low muscle capacity for oxidative phosphorylation documented by cycle ergometry. The sporadic occurrence of this mutation in muscle alone suggests that it arose de novo in myogenic stem cells after germ-layer differentiation. Mutations in mtDNA-encoded COX genes should be considered in patients with recurrent myoglobinuria.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
8/46. Acute cardiomyopathy with rhabdomyolysis in chronic alcoholism.Of five chronic alcoholics with acute skeletal muscle necrosis (rhabdomyolysis) three developed acute heart failure with disturbances of rhythm and conduction. Symptoms came on abruptly after a period of intensified drinking. myocardial infarction, thiamine deficiency, and cobalt intoxication were excluded. Probably the whole spectrum of muscle disease in chronic alcoholism may be commoner than has been suspected.- - - - - - - - - - ranking = 4keywords = myopathy (Clic here for more details about this article) |
9/46. Alpha-sarcoglycan deficiency featuring exercise intolerance and myoglobinuria.An 8-year-old boy was referred for recent onset of easy fatigue. He showed hyperCKemia and mild scapular winging. Muscle biopsy on the quadriceps muscle demonstrated slight fibre size variability. dystrophin was normally distributed, carnitine palmitoyl transferase and glycolytic enzymes had normal activities. In the following years the patient developed exercise intolerance and myoglobinuria. immunohistochemistry showed marked reduction of alpha-sarcoglycan, confirmed by Western blotting. Molecular analysis revealed compound heterozygosity with Arg284Cys and Glu137Lys substitutions, corresponding to nucleotide changes C850 T and G409 A in the gene. At present the patient, 20 years old, shows mild proximal weakness with prominent involvement of the paraspinal muscles, dorsal kyphosis and lumbar hyperlordosis. exercise intolerance and myoglobinuria, already described in Becker muscular dystrophy, should be also considered among the possible presentations of sarcoglycan deficiencies.- - - - - - - - - - ranking = 5.226412378271keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
10/46. Massive postoperative rhabdomyolysis following combined CABG/abdominal aortic replacement: a possible association with HMG-CoA reductase inhibitors.OBJECTIVE: The beneficial effects of the treatment of hyperlipidemia in the secondary prevention of ischemic heart disease are well established. pravastatin is a 3-hydroxy-3-methylglutaryl coenzyme a (HMG CoA) reductase inhibitor often prescribed for the treatment of hypercholesterolemia. Occasional side effects include increased creatine kinase levels and myalgias worsened by exertion, rarely presenting with severe myopathy and rhabdomyolysis resulting in myoglobinuria and renal failure. patients AND methods: We report on a case of a 68-year-old male patient who developed rhabdomyolysis, severe myoglobinuria, and acute renal failure following uneventful coronary bypass grafting surgery (CABG) combined with infrarenal replacement of the abdominal aorta. The patient presented with numerous risk factors for development of rhabdomyolysis following surgical intervention. We underscore important contributory factors and discuss differential diagnostic considerations e.g., malignant hyperthermia and neuroleptic malignant syndrome in such patients. CONCLUSIONS: Considering the high risk of perioperative mortality in patients that routinely take fat lowering substances, we suggest to discontinue the intake prior to surgical interventions.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
| | Next -> |