Definition:
King-Denborough Syndrome is the termed used for the combination of the particular characteristics of people with malignant hyperthermia. King-Denborough syndrome is a usually inherited reaction to exposure to general anesthesia and its component drug like volatile anesthetics. It is a rare life-threatening condition. Malignant hyperthermia is an autosomal dominant disorder that is usually inherited. It is genetically related to Central Core Disease (CCD), another autosomal dominant disorder that is remarkable by MH symptoms and neuromuscular disease that leads to muscle weakness.
Exposure to drugs of this kind can lead to circulatory collapse and worse, death if left untreated.
Diagnosis:
Standard procedures to confirm diagnosis include: Caffeine-Halothane Contracture Test (CHCT), Calcium-Induced Calcium Release Test, and muscle biopsy.
Treatment:
Existing treatment involves administration of Dantrolene intravenously; suspend exposure to triggering agents, and support therapy aimed at correcting hyperthermia, organ dysfunction, and acidosis.
Symptoms and Signs:
Signs and symptoms significant to Malignant Hyperthermia or King-Denborough Syndrome are the following:
* Muscular rigidity
* Tachycardia
* Increased carbon dioxide production (hypercarbia)
* Increased in body temperature (hyperthermia)
* Short stature
* Myopathy
* Undescended testicles (cryptorchidism)
* Chest wall resembling the chest of the pigeon
* Kyphosis or lordosis (deformities of the spine)
* Unusual facial characteristics including small mandible and drooping upper eyelid, among others
Causes:
Malignant hyperthermia is inherited as an autosomal dominant disorder.
The information on this site is for research purposes only and can not substitute for the advice of a medical professional. Ailments.com is not run by doctors and does not engage in the practice of medicine. Our site is not a medical authority, it is just a research tool for you to use in preparation for consulting with a doctor. We can not guarantee our information is accurate or up to date. Even if a statement made about a medical condition is accurate, it may not apply to you or your symptoms, so you should always consult a doctor. Nothing on our site should be construed as an attempt to offer or render a medical opinion or otherwise engage in the practice of medicine.
