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Laforet P. Wary C. Duteil S. de Kerviler E. Carlier PG. Lombes A. Romero NB. Fardeau M. Eymard B. Leroy-Willig A.
Institut de Myologie, Federation de Neurologie Mazarin, Hopital de la Salpetriere, Paris.
[Exploration of exercise intolerance by 31P NMR spectroscopy of calf muscles coupled with MRI and ergometry]. [French]
Revue Neurologique. 159(1):56-67, 2003 Jan.
Abstract
One hundred patients presenting with exercise intolerance or rhabdomyolysis episodes have been examined successively by 31P Nuclear Magnetic Resonance Spectroscopy (MRS) of leg plantar flexor muscles with exercise test. In all cases a muscle biopsy was performed. At the end of investigations, diagnosis of a metabolic myopathy was made in 33 patients: glycogenolysis or glycolysis deficiency in 8 cases, mitochondrial myopathy in 24 cases and CPT II deficiency in one case. Muscular dystrophy or congenital myopathy were diagnosed in 6 cases. No precise etiology could be found in 30 patients with either high CK levels or muscle biopsy abnormalities. Seven patients had rhabdomyolysis related to excessive physical activities. Twenty-four patients had functional symptoms. The principal MRS parameters used for diagnosis were the values of intracellular pH at the end of exercise and the time constant of phosphocreatine resynthesis during recovery. Lack of acidosis after exercise was observed in all patients with blockade of glycogenolysis or glycolysis. A slowing in phosphocreatine resynthesis was found in 66 p.cent of patients with definite mitochondrial myopathy. The specificity of these parameters were respectively 92.4 p.cent and 85.5 p.cent for the two groups. In conclusion (31)P MRS allows the detection of muscular glycogenoses with a sensitivity close to 100 p.cent. However, its sensitivity was lower for the detection of mitochondrial myopathies, as is also known for the other in vivo metabolic investigations, reflecting the heterogeneity of expression of mitochondrial abnormalities in a given muscle. The integration of imaging in the examination protocol may help to orientate towards the diagnostic of a dystrophy in some patients.
Lofberg M. Jankala H. Paetau A. Harkonen M. Somer H.
Institute of Neurosciences, Department of Neurology, Helsinki University Central Hospital, Finland.
Metabolic causes of recurrent rhabdomyolysis.
Acta Neurologica Scandinavica. 98(4):268-75, 1998 Oct.
Abstract
OBJECTIVES: The aim of the study was to evaluate the biochemical causes of recurrent rhabdomyolysis in Finland. MATERIAL AND METHODS: We examined 22 patients with recurrent rhabdomyolysis, and 26 patients with one episode of rhabdomyolysis or other symptoms compatible with metabolic myopathy. Muscle histopathology and activities of phosphorylase (PHRL) (total and active), phosphofructokinase (PFK), carnitine palmitoyltransferase (CPT) and myoadenylate deaminase (MAD) were studied. The limit of enzyme deficiency was defined as enzyme activity less than 5% of the mean of the control subjects. RESULTS: We found 4 patients with muscle PHRL deficiency, 1 patient with PFK deficiency and 1 patient with evidence of phosphorylase kinase deficiency. One patient had Becker's muscle dystrophy, 2 patients had unspecified dystrophies, 1 patient had Miyoshi myopathy, and 1 patient had a form of mitochondrial encephalomyopathy (MELAS). CONCLUSION: Enzyme defects were found in 23% of the patients with recurrent rhabdomyolysis. Other muscle diseases, muscular dystrophies or myopathies, were detected in 18% of these patients, emphasizing the value of clinical and histopathological examination of patients with previous rhabdomyolysis.
Drouet A. Guilloton L. Volckmann P. Ribot C. Flechaire A.
Service de neurologie, HIA Desgenettes, 108, boulevard Pinel, 69275, Lyon, France.
[Recurrent rhabdomyolysis revealing chronic exertional compartment syndrome of the biceps]. [French]
Annales de Readaptation et de Medecine Physique. 44(2):95-8, 2001 Mar.
Abstract
OBJECTIVE AND PATIENT: To report, an uncommon case of recurrent effort-related biceps compartment syndrome induced by strengthening exercises (body building) in a thirty-years-old white man. DISCUSSION-CONCLUSION: compartment syndrome is typically observed in the lower leg or in the forearm with pain, muscle tightness, cramp-like feeling during exertion. The involvement of the biceps was only described after traumatisms. Patient was initially thought to have metabolic myopathy because acute episodes of exercise induced myalgia and elevated serum CK. Tissue pressure monitoring prior and after a standard exercise test is helpful for diagnosing the recurrent form. The only alternative to fasciotomy is to stop sports activities.
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