Abstract
A boy with recurrent exertional rhabdomyolysis and stunted growth is described. Fetal movements were few and the boy was small for gestational age. He always experienced easy fatigability, and he, noted bouts of pigmenturia associated with episodes of considerable malaise. The change in color of the urine was caused by myoglobin. An electromyogram was myopathic. CPK rose during 60 minutes mild exercise. Prolonged moderate exercise could not be performed. Histopathological examination of muscle biopsy revealed an increase in the number of 11 C fibres (20%). Electronmicroscopy revealed the wavy outline of a number of fibres and hypertrophy of sarcoplasmic reticulum elements. No cause for the stunted growth could be detected.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
D'Agostino, A. N., Ziter, F. A., Rallison, M. L., Bray, P. F.: Familial myopathy with abnormal muscle mitochondria. Arch. Neurol. 18, 388–401 (1968)
Cederblad, G., Lindstedt, S.: A method for the determination of carnitine in the picomole range. Clin. Chim. Acta 37, 235 (1972)
Cumming, W. J. K., Hardy, M., Hudgson, P., Walls, J.: Carnitine-palmityl-transferase deficiency. J. Neurol. Sci. 30, 247–258 (1976)
Demos, M. A., Gitin, E. L., Kagen, L. J.: Exercise myoglobinemia and acute exertional rhabdomyolysis. Arch. Int. Med. 134, 669–673 (1974)
DiMauro, S., DiMauro, P. M. M.: Muscle carnitine palmityl-transferase deficiency and myoglobinuria. Science 182, 929–931 (1973)
Engel, W. K., Vick, N. A., Glueck, C. J., Levy, R. J.: A skeletal muscle disorder associated with intermittent symptoms and a possible defect of lipid metabolism. New Eng. J. Med. 282, 697–704 (1970)
Karpati G., Carpenter, S., Labrisseau, A., Lafontaine, R.: The Kearns-Shy Syndrome. A multisystem disease with mitochondrial abnormality, demonstrated in skeletal muscle and skin. J. Neurol. Sci. 19, 133–151 (1973)
Karpati, G., Carpenter, S., Engel, A. G., Watters, G., Allen, J., Rothman, S., Klassen, G., Mamer, D. A.: The syndrome of systemic carnitine deficiency. Clinical, morphologic, biochemical and pathophysiologic features. Neurology 25, 16–24 (1975)
Klinkerfuss, G., Bleisch V., Dioso, M. M., Perkoff, G. T.: A spectrum of myopathy associated with alcoholism. II Light and electron microscopic observations. Ann Int. Med. 67, 493–570 (1967)
Korein, J., Coddon, D. R., Mowrey, F. H.: The clinical syndrome of paroxysmal paralytic myoglobinuria. Neurology 9, 767–785 (1959)
McLeod, J. G., Baker, W. de C., Shorey, C. D., Kerr, C. B.: Mitochondrial myopathy with multisystem abnormalities and normal ocular movements. J. Neurol. Sci. 24, 39–52 (1975)
Robotham, J. L., Haddow, J. E.: Rhabdomyolysis and myoglobinuria in childhood. Pediat. Clin. N. Am. 23, 279–301 (1976)
Rowland, L. P., Penn, A. S.: Myoglobinuria. Med. Clin. N. Am. 56, 1233–1256 (1972)
Savage, D. C. L., Forbes, M., Pearce, G. W.: Idiopathic rhabdomyolysis. Arch. Dis. Child. 46, 594–607 (1971)
Sengers, R. C. A., Stadhouders, A. M., Jaspar, H. H. J., Trijbels, J. M. F., Daniels, O.: Cardiomyopathy and short stature associated with mitochondrial and/or lipid storage myopathy of skeletal muscle. Neuropaediatrie 7, 196–208 (1976)
Shapira, Y., Cederbaum, S. D., Cancilla, P. A., Nielsen, D, Lippe, B. M.: Familial poliodystrophy, mitochondrial myopathy and lactate acidemia. Neurology 25, 614–621 (1975)
Tarlow, M. J., Lake, B. D., Lloyd, J. K.: Chronic lactic acidosis in association with myopathy. Arch. Dis. Child. 48, 489–492 (1973)
Van Wijngaarden, G. K., Bethlem, J., Meyer, A. E. F. H., Hulsmann, W. C., Feltkamp, C. A.: Skeletal muscle disease with abnormal mitochondria. Brain 90, 577–592 (1967)
Author information
Authors and Affiliations
Additional information
We wish to thank Dr. S. L. H. Notermans and Dr. H. M. Vingerhoets for performing the EMG studies. The authors are greatly indebted to Miss M. de Bruijn for her skilful technical assistance. This study was supported by a grant from the Prinses Beatrix Fonds
Rights and permissions
About this article
Cite this article
Sengers, R.C.A., Stadhouders, A.M., Trijbels, J.M.F. et al. Recurrent exertional rhabdomyolysis and stunted growth. Eur J Pediatr 129, 133–138 (1978). https://doi.org/10.1007/BF00442373
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00442373