[Central core disease associated with malignant hyperthermia sensitivity].
The authors report the case of a 57-year old woman who was susceptible to malignant hyperthermia (MH) and also had central core disease (CCD) of muscle. The latter was asymptomatic and was discovered when muscle biopsy was performed for in vitro tests of susceptibility to malignant hyperthermia. This case was compared with the 117 cases of CCD and 33 cases of CCD associated with MH published in the literature. Anaesthesia-induced MH is lethal in 80 per cent of the cases without treatment and in 20 per cent with treatment. CCD and MH are both transmitted as autosomal dominant traits. Susceptibility to MH is a functional abnormality of unknown mechanism. CCD is a disease of muscle fibre structure. One may hope that molecular studies and genetic probes will show whether or not these two diseases are transmitted by genes that are similar but distinct and independent.
Krivosic-Horber
R
R
Département d'Anesthésie-Réanimation chirurgicale 1, Centre hospitalier régional universitaire, Lille.
Krivosic
I
I
D000293:Adolescent; D000328:Adult; D000368:Aged; D001706:Biopsy; D002110:Caffeine; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D006221:Halothane; D006801:Humans; D008297:Male; D008305:Malignant Hyperthermia / Q000150:complications*; D008875:Middle Aged; D009468:Neuromuscular Diseases / Q000150:complications / Q000151:congenital* / Q000235:genetics / Q000473:pathology; D010375:Pedigree
D002110:Caffeine; D003402:Creatine Kinase; D006221:Halothane
Myopathie à axe central (central core disease) associée à une sensibilité à l'hyperthermie maligne.