Résumé :
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Communication n° 613 A 24-year-old Caucasian girl, without familial history of metabolic myopathy, presented weakness, intense myalgia and exercice intolerance without second wind since early infancy. In childhood, she was admitted twice to hospital with acute renal failure, myoglobinuria and haemolytic anemia due to rhabdomyolysis following a limited walk. The physical examination showed limb weakness with myalgia after squatting exercice; the run was difficult but at rest, the examen was normal. P-31 magnetic resonance spectroscopy provided characteristic spectra of type VII glycogen storage disease. The muscle biopsy with study of glycolytic enzyme activities confirmed Tarui's disease. References: . Glycolytic defects in muscle: aspects of collaboration between basic science and clinical medicine. Tarui S. Muscle and Nerve suppl 3: 1995 . No spontaneous second wind in muscle phosphofructokinase deficiency. Haller R. Neurology 2004
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