Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0024591 (malignant hyperthermia)
 2,353 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 4-year-old boy with Williams syndrome developed masseter spasm after halothane and suxamethonium. He did not develop malignant hyperthermia; the surgery was accomplished with a nontriggering anaesthetic and no further problems.
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PMID:Williams syndrome: masseter spasm during anaesthesia. 188 3

We present the case of a patient affected with Williams syndrome (WS), who developed a suspected malignant hyperthermia (MH) reaction to general anesthesia. The proximity to the WS region of the gene encoding the L-type voltage-gated calcium channel alpha 2/delta-subunit (CACNL2A) on 7q11.23-q21.1, previously shown to be closely linked to some forms of MH susceptibility, prompted us to investigate whether this gene is deleted in WS. Linkage studies and fluorescence in situ hybridization analysis demonstrated that the CACNL2A locus is localized outside the WS deleted region.
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PMID:Anesthesiologic problems in Williams syndrome: the CACNL2A locus is not involved. 870 1

A 5-year-old boy with Williams syndrome received open reduction of fracture of the antebrachium twice. He had been diagnosed as having Williams syndrome with some characteristic symptoms, including elfin face, mental retardation and primary pulmonary hypertension. Williams syndrome has a tetrad of cardiovascular disease, elfin face, mental retardation and hypercalcemia. Operations were performed twice under general anesthesia. Airway management with mask technique was easily performed. Tracheal intubation was accomplished successfully. Anesthesia was induced with propofol, fentanyl, and vecuronium, and maintained with propofol, fentanyl and the inhalation of oxygen with nitrous oxide. Both anesthetic courses were uneventful and he was discharged without any complications. Special anesthetic considerations should be taken for difficulties of intubation, management of circulatory system, malignant hyperthermia, and hypercalcemia in this syndrome.
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PMID:[Two occasions of anesthetic management for a patient with Williams syndrome]. 1367 82

A 28-month-old boy (height, 76 cm; weight, 9.4 kg) diagnosed as having Williams syndrome presented for dental care. We report a case of postoperatively suspected malignant hyperthermia after the administration of general anesthesia for dental treatment in this patient with severe supravalvular aortic stenosis and pulmonary artery hypoplasia. Anesthesia was maintained through the inhalation of nitrous oxide and sevoflurane with oxygen. The patient was hemodynamically stable and no other abnormalities were observed. After the completion of the dental treatment, he was transferred to the pediatric ward. On arrival at the ward, the patient's core temperature increased to 39.5 degrees C and tachypnea (RR, 30 breaths/min) was observed. The SPO2 during inhalation was slightly low (92%-93%). Serum biochemistry revealed an elevated CK level (1345 U/L) but no other abnormal findings. Twelve hours after the dental treatment, the patient's core temperature fell to 37.4 degrees C. After hospitalization for 4 days, the patient was discharged in good condition. In the present case, general anesthesia was employed for dental treatment despite severe supravalvular aortic stenosis and peripheral pulmonary artery hypoplasia, because conventional dental therapy was very difficult as a result of the patient's mental retardation and hyperkinesia. The present case suggests that the use of volatile agents that could trigger malignant hyperthermia should be avoided wherever possible.
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PMID:General anesthesia for dental treatment in a Williams syndrome patient with severe aortic and pulmonary valve stenosis: suspected episode of postoperatively malignant hyperthermia. 1768 62