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[Central core disease associated with malignant hyperthermia sensitivity].
R Krivosic-Horber1, I Krivosic
1Département d'Anesthésie-Réanimation chirurgicale 1, Centre hospitalier régional universitaire, Lille.
Presse Medicale (Paris, France : 1983)
|April 22, 1989
Summary
Malignant hyperthermia (MH) susceptibility and central core disease (CCD) can coexist. This case highlights the importance of in vitro testing for MH susceptibility, even in asymptomatic individuals with muscle disorders like CCD.
Area of Science:
- Neurology and Genetics
- Musculoskeletal Diseases
Context:
- Presents a case of a 57-year-old woman with coexisting malignant hyperthermia (MH) susceptibility and asymptomatic central core disease (CCD).
- CCD was incidentally discovered during in vitro testing for MH susceptibility, underscoring the diagnostic utility of such tests.
- Compares this case with existing literature, including 117 cases of CCD and 33 cases of CCD associated with MH.
Purpose:
- To report a rare co-occurrence of MH susceptibility and central core disease.
- To discuss the implications of this association for diagnosis and patient management.
- To explore the potential genetic relationship between MH susceptibility and CCD.
Summary:
- The patient exhibited both MH susceptibility and asymptomatic CCD, a combination not frequently reported.
- MH, particularly when induced by anesthesia, carries significant mortality risks.
- Both conditions are inherited as autosomal dominant traits, suggesting potential shared or linked genetic factors requiring further investigation through molecular studies.
Impact:
- Highlights the critical need for comprehensive diagnostic approaches in patients with muscle disorders.
- Emphasizes the potentially lethal nature of undiagnosed malignant hyperthermia.
- Suggests avenues for future research into the genetic underpinnings of MH and CCD, potentially leading to improved diagnostic tools and targeted therapies.