King-Denborough syndrome
King-Denborough syndrome Causes
Malignant hyperthermia is inherited as an autosomal dominant disorder.
King-Denborough syndrome 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.
King-Denborough syndrome Diagnosis
Standard procedures to confirm diagnosis include: Caffeine-Halothane Contracture Test (CHCT), Calcium-Induced Calcium Release Test, and muscle biopsy.
King-Denborough syndrome 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
King-Denborough syndrome Treatment
Existing treatment involves administration of Dantrolene intravenously; suspend exposure to triggering agents, and support therapy aimed at correcting hyperthermia, organ dysfunction, and acidosis.