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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Malignant hyperthermia and central core disease in a child with congenital dislocating hips.

We describe a development of a malignant hyperthermia (MH) syndrome, partially aborted by therapy, in a child with central core disease and congenital dislocating hips. Patients with central core disease appear to be more susceptible to MH; possibly those with elevated serum creatine phosphokinase levels, as in our patient, are especially susceptible. We review the clinical and pathologic aspects, possible pathogenesis, and treatment of the MH syndrome. An increased calcium level within the muscle fiber is suggested as the major cytodestructive factor, and that increase could be consequent to a plasmalemmal susceptibility to the provoking drugs hypothesized to be the basic defect in MH. Prevention of the full manifestations of MH is predicated on (1) a high index of suspicion in the search for history of anesthetic complications in the patient and his family, with or without evident neuromuscular disease, (2) recognition that there is a somewhat greater risk of MH developing in a patient who has certain "musculoskeletal" abnormalities or muscle weakness but that is not-except for central core disease-a classic clinicopathologically defined disease, (3) close monitoring of patients during anesthesia, and (4) if the syndrome develops, prompt therapeutic measures, including cessation of anesthesia.[1]


  1. Malignant hyperthermia and central core disease in a child with congenital dislocating hips. Eng, G.D., Epstein, B.S., Engel, W.K., McKay, D.W., McKay, R. Arch. Neurol. (1978) [Pubmed]
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