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Dominantly inherited malignant hyperthermia (MH) in the King–Denborough Syndrome

1992; Wiley; Volume: 15; Issue: 6 Linguagem: Inglês

10.1002/mus.880150619

1097-4598

H Isaacs, M Badenhorst,

RNA regulation and disease

Abstract A 14‐year‐old boy, an only child, with the phenotypical dysmorphic features of the King–Denborough Syndrome developed a severe hyperthermic episode during anesthesia which responded to the administration of sodium dantrolene. As adequate metabolic studies were not available at the time of the crisis he was referred for confirmation of the malignant hyperthermia (MH) status. Muscle tension studies confirmed the presence of MH. The patient's mother and father were subsequently tested and the mother was found to be MH positive, the father MH negative.