Abstract
A 13-year-old boy with a mild limb girdle muscular weakness had a massive rhabdomyolosis and cardiac arrest after general anesthesia. A congestive cardiomyopathy then developed.
Muscle biopsy reveled an unspecific «myopathic» degeneration of muscle fibers and a slight accumulation of lipid droplets. Carnitine content was markedly reduced in muscle and moderately in plasma.
Both prednisone and carnitine therapies were unable to improve the heart insufficiency, and the patient died 1 year after the acute episode of rhabdomyolysis.
Sommario
È descritto il caso di un ragazzo di 13 anni, la cui storia clinica è iniziata con un episodio di arresto cardiaco e mioglobinuria dopo una anestesia generale. Il Paziente che, fin dall'infanzia aveva una certa intolleranza all'esercizio prolungato, ha quindi sviluppato una miopatia prossimale e una cardiomiopatia evolutiva. La biopsia muscolare da un quadro di miopatia aspecifica con un incremento endofibrale di lipidi; nel muscolo e nel plasma vi è un netto deficit di carnitina libera e totale. Nonostante la terapia sostitutiva con carnitina, la cardiomiopatia ha esito fatale. Il caso viene discusso alla luce delle possibili interrelazioni tra deficit di carnitina e complicazioni muscolari indotte dalla anestesia generale.
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Cornelio, F., Di Donato, S., Testa, D. et al. “Carnitine deficient” myopathy and cardiomyopathy with fatal outcome. Ital J Neuro Sci 1, 95–100 (1979). https://doi.org/10.1007/BF02336850
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DOI: https://doi.org/10.1007/BF02336850