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

A 6-year-old boy with a rare mitochondrial disease (MELAS: mitochondrial encephalopathy, lactic acidosis, stroke-like episodes) was presented to undergo adenoid resection and bilateral paracentesis. ENT surgery was performed without complications under general anaesthesia using propofol, fentanyl, and ventilation with nitrous oxide and oxygen. Routine intraoperative monitoring (ECG, noninvasive blood pressure, oxymetry and capnometry) was supplemented by frequent body temperature measurements and repeated laboratory analysis of venous blood gases, lactate, and glucose. Clinically, the postoperative course was uneventful and the boy was discharged from hospital on the first postoperative day. Signs or symptoms of malignant hyperthermia never occurred. Laboratory analysis only showed a remarkable serum lactate elevation postoperatively (6 mmol/l) which decreased on the first postoperative day (3.7 mmol/l). The present anaesthesiologic experiences with MELAS-syndrome are limited, and recommendations are mainly based on case reports. Careful preoperative physical examination with special regard to all available medical records, and anaesthetic management comparable with that in malignant hyperthermia susceptible resulted in an uneventful course in our patient. Pathogenetic aspects of mitochondrial diseases focussing on anaesthetic considerations are briefly discussed.
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PMID:[Anesthesia in mitochondrial encephalomyopathies]. 1149 20

Mitochondrial disorders encompass a group of syndromes produced by genetic defects that disrupt mitochondrial energy production. The impaired mitochondrial energy supply affects nearly all organs and tissues leading to a variable clinical presentation. The possible multisystem involvement complicates the management of anaesthesia and perioperative care. Exact knowledge of the path physiology of mitochondrial diseases may help to avoid perioperative anaesthesiological complications. This report describes the anaesthetic management of a patient with a mitochondrial disorder during combined pancreatic and renal transplantation, and discusses some of the anaesthetic implications of mitochondrial diseases. Due to the potential susceptibility of patients with mitochondrial diseases to malignant hyperthermia, anaesthesia was induced and maintained as total intravenous anaesthesia using propofol, alfentanil and cis-atracurium. In addition, the patient was treated intraoperatively with hydrocortisone (initial bolus of 50 mg followed by a continuous infusion of 4.8 mg/h) and insulin (continuous infusion of 2 IE/h) in order to manage the adrenocortical insufficiency as well as to treat the diabetes mellitus. Using this anaesthetic technique, satisfactory haemodynamic and metabolic conditions were achieved during surgery. The postoperative period, however, was marked by severe respiratory complications.
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PMID:[Anaesthesia for combined pancreatic and renal transplantation in a patient with mitochondrial encepahalomyopathy--a case report]. 1531 61

Patients with mitochondrial disease are at risk of metabolic decompensation and often require general anaesthesia (GA) as part of their diagnostic work up and subsequent management. However, the evidence base for the use of GA is limited and inconclusive. We have documented the practice and outcome in the use of GA in paediatric patients with mitochondrial disease using a retrospective case review study of 38 mitochondrial patients who had undergone 58 anaesthetics within the regional metabolic service for the period 1989-2005. A variety of anaesthetic agents were used and the pattern of use reflects that seen in standard paediatric practice. There were no episodes of malignant hyperthermia and no documented intraoperative events attributable to the GA. Three postoperative adverse events were noted; one episode of hypovolaemia, one episode of acute on chronic renal failure, and one episode of metabolic decompensation 12 h post-muscle biopsy. Despite theoretical concern about this group of patients, adverse events after GA are rare and in most cases unrelated to the anaesthesia. Further prospective studies of GA in mitochondrial disease are required to create evidence-based clinical guidelines for safe practice.
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PMID:Mitochondrial disorders and general anaesthesia: a case series and review. 1828 93

Occasionally, patients with mitochondrial disorder (MID) develop malignant hyperthermia (MH)-like reactions or show an abnormal halothane-caffeine in-vitro contracture test. In a 66 year old Caucasian male with facial dysmorphism, epilepsy, chronic muscle cramps, repeatedly elevated creatine-kinase, Dupuytren contracture, and hypertrophic cardiomyopathy, a MID was found upon the clinical presentation, blood chemical investigations, and the muscle biopsy findings. Upon request of the anesthesiologists prior to surgery of a hernia cicatrices a halothane-caffeine in-vitro contracture test was carried out according to the protocol of the European MH Group (EMHG), showing abnormal hypercontractility to halothane and caffeine, resulting in the diagnosis susceptible MH according to the EMHG guidelines. Subsequent general anesthesia was carried out without complications by avoiding volatile anesthetics and succinylcholine. In the past the patient had already tolerated four procedures under general anesthesia, without any complication. MIDs may be associated with an abnormal halothane-caffeine in-vitro contracture test. Though previous general anesthesias had been carried out without major complications, it cannot be ruled out that MH-like manifestations may develop during future anesthesias if trigger agents are not avoided.
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PMID:Malignant hyperthermia susceptibility in a patient with mitochondrial disorder. 1971 56

Mitochondrial disease has been uncommon conditions, still results in death during childhood in many cases. The ideal anesthetic pharmacological management strategy for adult patients with mitochondrial disease is currently unclear. In this study, we presented features of the anesthesia methods employed and the perioperative complications of patients in our institution and in previously published case reports. We report the use of general anesthesia 7 times in 6 adult patients with mitochondrial disease during 2004-2014. All cases were performed with maintained intravenous anesthesia. One case was reintubated on the day after surgery, but the cause of death was not directly related to anesthesia. One hundred and eleven general anesthesia cases in 97 adult patients with mitochondrial disease were described in 83 the literature. Although several severe perioperative complications and deaths have been reported, malignant hyperthermia had not been reported in adult cases, and metabolic disorder called propofol infusion syndrome had also not been reported in adult patients undergone total intravenous anesthesia. Perioperative complications of lactic acidosis were reported more in inhalation anesthesia than intravenous anesthesia. Therefore we recommended intravenous anesthesia rather than inhalation anesthesia for adult mitochondrial disease.
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PMID:Perioperative considerations in adult mitochondrial disease: A case series and a review of 111 cases. 2660 85

We report the case of 2 pediatric patients with coexisting diagnoses of malignant hyperthermia susceptibility and mitochondrial disease in 2 different surgical settings. Due to the rare occurrence of each disorder, and even more so together, we reviewed evidence-based anesthetic concerns and described our perioperative management, with the goal of aiding future practitioners in safely caring for these patients. Consent was obtained for both patients, as well as IRB approval before publication.
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PMID:Anesthetic Management of Two Pediatric Patients With Concurrent Diagnoses of Mitochondrial Disease and Malignant Hyperthermia Susceptibility: A Case Report. 2860 62