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)

We describe 49 neurologically asymptomatic patients with persistently increased serum creatine kinase (CK) levels (idiopathic hyperCKemia or IHCK) who were referred to our institution for diagnostic muscle biopsy, including malignant hyperthermia (MH) susceptibility testing between 1979 and 1993. Muscle biopsy samples of the vastus lateralis were obtained for histologic analysis and MH contracture testing with halothane and caffeine. From 1979 to November 1987, patients were tested for MH in accordance with a standardized institutional protocol. After November 1987, contracture testing was performed according to the recently adopted North American MH Group protocol. In both protocols, a patient was considered to be MH susceptible (MHS) if one or more muscle strip demonstrated an abnormal contracture response after exposure to 3% halothane, 2% halothane, or caffeine alone. Twenty-four of the 49 IHCK patients (49%) had positive contracture tests. No significant correlation was found between the magnitude of CK increase and the incidence of MHS or histologic abnormalities. Unexplained persistently increased CK levels in an otherwise healthy patient should alert the anesthesiologist to the possibility of MHS and/or myopathy.
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PMID:Malignant hyperthermia testing in patients with persistently increased serum creatine kinase levels. 914 28

We report on three families with the Gly341Arg ryanodine receptor gene (RYR1) mutation. Thirteen individuals were heterozygote carriers of the Gly341Arg mutation and had clearly positive in vitro contracture tests, indicating malignant hyperthermia susceptibility. Nine Gly341Arg mutation positive individuals from two families had elevated serum creatine kinase (CK) activity at rest (up to six times the normal upper limit). Their clinical and neurological examinations as well as detailed muscle histology were normal. The third family did not show increased CK activity. These findings indicate that the Gly341Arg mutation can be a specific cause of chronically elevated serum CK activity in asymptomatic individuals.
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PMID:Gly341Arg mutation indicating malignant hyperthermia susceptibility: specific cause of chronically elevated serum creatine kinase activity. 954 23

The King syndrome is characterized by a Noonan-like phenotype, the presence of a nonspecific myopathy and a predisposition to malignant hyperthermia. In some families, mild physical manifestations of the phenotype and/or elevated serum creatine phosphokinase (CPK) in relatives suggest the presence of an autosomal dominant myopathy with variable expressivity. We summarize the cases of 14 previously reported patients and describe a new patient, a 7-year-old girl, with the King syndrome and the unique findings of diaphragmatic eventration, tethered spinal cord, and severe paucity of type 2 skeletal muscle fibers. It has been proposed that the King syndrome represents a common phenotype that may result from several different slowly progressive congenital myopathies. This hypothesis, and the phenotypic overlap between the King and Noonan syndromes are discussed in light of the findings in this new patient.
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PMID:King syndrome: further clinical variability and review of the literature. 967 61

Satoyoshi syndrome is a rare neurological disorder of unknown etiology characterized by progressive muscle spasms, alopecia, diarrhea and skeletal abnormalities. We here describe a 25-year-old man who developed symptoms similar to neuroleptic malignant syndrome (NMS). He began to have the clinical characteristics of Satoyoshi syndrome at the age of 12 years. He was admitted to hospitals many times with painful muscle spasms and pyrexia in the early stage of the disease. He received steroid pulse therapy and oral prednisone at the age of 19, the extent and frequency of the spells being reduced thereafter. He was admitted to our hospital due to recurrence of his usual muscle spasms. He was treated with midazolam intravenously to relieve severe muscle ache, pain in the left shoulder, and insomnia. About 90 minutes later, he became comatose, with the following manifestations: hyperthermia, low blood pressure, tachycardia, profuse perspiration, acute respiratory failure, and ensuing cardiac arrest. He developed rhabdomyolysis, acute renal failure, hepatic damage, and diffuse intravascular coagulation. Serum creatine kinase level was elevated to 306,910 IU. He died of multiple organ failure 13 days after admission. His symptoms resembled NMS and malignant hyperthermia (MH). None of patients with Satoyoshi syndrome accompanied by NMS or MH have been reported. It remains to be clarified whether midazolam administration induces NMS in Satoyoshi syndrome. Nevertheless, careful attention should be paid when one administers midazolam to patients with this syndrome.
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PMID:[A case of Satoyoshi syndrome with symptoms resembling neuroleptic malignant syndrome]. 986 7

A 33-year-old man with chronic alcoholism presented with left flank pain and a low-grade fever. He had a previous history of left renal calculi treated by extracorporeal shockwave lithotripsy 3 months previously at a local hospital. Since a stone was impacted at the ureteropelvic junction resulting in septic hydronephrosis, a D-J catheter was introduced to relieve the condition. He underwent fluid therapy with antibiotics. Elective pyelolithotomy was scheduled on day 10. However, persistent pyonephrosis necessitated the removal of the infected kidney. Hyperthermia over 40 degrees C continued after surgery and dark urine developed on postoperative day 2. Rhabdomyolysis was suspected because of myoglobulinemia with a high creatine phosphokinase level. Systemic cooling and treatment with fluid and diuretics saved his renal function. He survived episodic malignant hyperthermia and was discharged from intensive care unit on postoperative day 5.
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PMID:[Rhabdomyolysis following nephrectomy for pyonephrosis: a case report]. 1033 Nov 80

Serum myoglobin (by radioimmunoassay) and creatine kinase were measured for up to 7 days in 30 patients following surgical procedures, including total hip replacement and bilateral subcostal abdominal incisions. Serum myoglobin reached a maximum of 1390 micrograms litre-1 (median 345 micrograms litre-1 for major surgery patients) on the first postoperative day but levels were still elevated by day 7 in some patients. Creatine kinase reached a maximum of 1339 i.u. litre-1 at day 2 (median 422 i.u. litre-1 for major surgery patients), generally peaking 1 day after myoglobin in individual patients. These values may have significance when investigating a suspicion of coincident perioperative events such as myocardial infarction or malignant hyperthermia.
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PMID:Serum myoglobin and creatine kinase following surgery. 1089 53

The authors submit the case-history of a 29-year-old man, followed up on account of liver steatosis with a toxic-nutritional etiology who developed, after previous increased physical exertion and alcohol abuse, fever associated with major muscular weakness. Gradually he developed an amental delirious state which was evaluated as suspect delirium tremens. Fever of 40-41 degrees C continued, the patient developed muscular rigidity, tremor and hypotension. After intubation during which succinylcholine was administered, the patient's condition deteriorated further with a rise of temperature and muscular rigidity. The patient developed acute renal failure with anuria and the necessity of repeated haemodialyses and severe acidosis of the mixed type on account of which he was intubated and switched to artificial ventilation. According to the case-history clinical and laboratory picture of the disease (extremely high creatine kinase activity, hyperkalaemia, acidosis, hepatorenal failure) malignant hyperthermia was suspected. After a single intravenous injection of sodium dantrolene, 2.5 mg/kg, the temperature dropped and within 24 hours the patient was afebrile. Gradually the acidosis improved, the blood pressure became stabilized and artificial ventilation was no longer used. The patient was discharged after 34 days in hospital in a state of cardiopulmonary compensation with mild polyuria but without signs of retention of nitrogenous substances with sideropenic anaemia and marginal creatine kinase and lactate dehydrogenase values. Within one month after discharge the laboratory values reached normal levels and only slight muscular weakness and greater fatiguability persisted.
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PMID:[An attack of malignant hyperthermia caused by a combination of the effects of succinylcholine, increased physical exertion and alcohol abuse]. 1095 47

The King-Denborough syndrome (KDS) is a congenital myopathy with musculoskeletal abnormalities, and definitely associated with susceptibility to malignant hyperthermia (MH). We present the first report in Japan concerning the management of a KDS patient. A 2-year-old boy was scheduled for cryptorchidopexy. He had some physical signs of KDS, e.g. pectus excavatum, low-set ears, malar hypoplasia, micrognathia, ptosis and down-slanting palpebral fissures. Moreover, his mother and maternal grand-uncle had medical history of MH. Therefore, he was diagnosed as KDS by pediatricians. All of the preoperative examinations, including serum creatine phosphokinase level, are normal. Previous 15 case-reports suggest that in KDS patients MH might be triggered by volatile anesthetics. To avoid the trigger, we maintained the general anesthesia with propofol, fentanyl and vecuronium. During perioperative period, his body temperature was 36.3-38.1 degrees C, and no symptom of MH was observed. It is rare that a diagnosis of KDS is made preoperatively since the MH-induction is involved in the criteria of this syndrome. In the anesthesia of patients who are suspected of KDS from their characteristic features or familial histories, an anesthesiologist should pay attention to prevent MH. The total intravenous anesthesia method appears useful for the management of KDS.
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PMID:[Anesthetic management of the King-Denborough syndrome]. 1134 52

The neuroleptic malignant syndrome (NMS) is a rare complication of antipsychotic therapy. We report on a 65-year-old patient who was treated with haloperidol, diazepam and mirtazapin because of a severe depressive episode with psychotic symptoms. He exhibited most of the signs and symptoms characteristic of NMS, e.g.: hyperthermia, rigidity, elevated creatine phosphokinase, leukocytosis, elevated liver enzymes, reduced consciousness and autonomic nervous system disturbances. A secondary pneumonia was diagnosed 2 days after the onset of the NMS, which might have been due to chest wall rigidity. Intensive care treatment consisted of immediate discontinuation of the offending agent, supportive therapy with rehydratation and catecholamines as well as application of dantrolen. After 23 days of intensive therapy all pathological parameters were normalised and the patient was transferred to an internal ward. Three main theories on the pathogenesis of NMS exist: 1. blockade of central receptors, 2. a skeletal muscle target model and 3. sympathoadrenal hyperactivity. The differential diagnosis includes among others malignant hyperthermia and serotonin syndrome.
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PMID:[Malignant neuroleptic syndrome after haloperidol administration]. 1141 68

We report the case of a 31-year-old man with Graves' disease who manifested malignant hyperthermia during subtotal thyroidectomy. His past medical history and family history were unremarkable. Before surgery, his condition was well controlled with propylthiouracil, beta-adrenergic blocker and iodine. During the operation, anesthesia was induced by intravenous injection of vecuronium and thiopental, followed by suxamethonium for endotracheal intubation. Anesthesia was maintained with nitrous oxide and sevoflurane. One hour after induction of anesthesia, his end tidal carbon dioxide concentration (ET(CO2)) increased from 40 to 50 mmHg, heart rate increased from 90 to 100 beats per min and body temperature began to rise at a rate of 0.3 degrees C per 15 min. Suspecting thyroid storm, propranolol 0.4 mg and methylprednisolone 1,500 mg were administered, which, however, had little effect. Despite the lack of muscular rigidity, the diagnosis of malignant hyperthermia was made based on respiratory acidosis. Sevoflurane was discontinued and dantrolene was given by intravenous bolus. Soon after the treatment, ET(CO2), heart rate and body temperature started to fall to normal levels. His laboratory findings showed abnormally elevated serum creatine phosphokinase and myoglobin but normal thyroid hormone levels. Since dantrolene is efficacious in thyrotoxic crisis and malignant hyperthermia, an immediate intravenous administration of dantrolene should be considered when a hypermetabolic state occurs during anesthesia in surgical treatment for a patient with Graves' disease.
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PMID:Malignant hyperthermia in a patient with Graves' disease during subtotal thyroidectomy. 1145 72


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