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 case of malignant hyperthermia in a Black boy is presented. He developed this condition during repair of a cleft palate, with halothane as the triggering agent. The importance of the high incidence of malignant hyperthermia in patients with certain musculoskeletal abnormalities is stressed. Despite a cool and well air-conditioned theatre, the patient's temperature was 41 degree C when the condition was suspected. At that stage general muscle rigidity was present. The patient was successfully treated with procainamide, sodium bicarbonate and hydrocortisone; surface cooling (with ice packs) was instituted and the stomach was washed out with ice-cold Ringer's solution. Over a period of 14 days serum creatine phosphokinase values decreased from 630 IU (on the day of the incident) to 12 IU. A muscle biopsy showed variation in muscle fibre size. Electron microscopical studies showed myofibrillar disruption and folding of the basement membrane. A modified version of Denborough's technique was used for the in vitro exposure of muscle strips to halothane and suxamethonium. Isometric contraction was measured and recorded. A severe contraction followed the exposure of muscle strips to halothane, which confirmed the diagnosis.
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PMID:[Malignant hyperthermia in a black child. A case report]. 69 25

The complications of 196 patients who underwent primary palatoplasties at North Carolina Memorial Hospital between 1963 and 1983 were reviewed. The von Langenbeck technique was utilized in 50 percent of the patients, the Wardill-Kilner technique in 45 percent, and the Dorrance technique in 5 percent. Intravelar veloplasties were performed in 34 percent of the patients. The incidence of postoperative complications was: deaths, 0 percent; malignant hyperthermia, 0 percent; aborted procedures, 0.5 percent; feeding difficulties, 0.5 percent; aspiration, 0.5 percent; reexploration for bleeding, 0.5 percent; pneumonia, 1 percent; upper respiratory tract infections, 2 percent; postoperative airway difficulties, 3 percent; oropharyngeal infections, 4 percent; and otitis media, 10 percent. Later evaluations demonstrated problems with otitis media in 17 percent of the patients and fistulas in 6 percent. An additional palatal operation of some type was later required in 22 percent of the patients, with 18 percent of the patients requiring a pharyngeal flap. Intravelar veloplasties were associated with a decreased incidence of secondary pharyngeal flaps but also an increased transfusion requirement. The Wardill-Kilner technique was associated with a higher incidence of postoperative fistulas, and the use of perioperative antibiotics was associated with fewer postoperative fistulas.
Cleft Palate J 1988 Apr
PMID:Complications of primary palatoplasty: a twenty-one-year review. 316 91

Six children of similar ethnic origin with congenital myopathy, cleft palate, malignant hyperthermia (or susceptibility to malignant hyperthermia), and skeletal anomalies are presented. The findings are remarkably consistent among our patients, 3 of whom were related. This syndrome is likely to be inherited as an autosomal recessive trait. Children with this disorder are likely to undergo surgery with general anesthesia for facial or skeletal deformities and should be recognized as predisposed to developing malignant hyperthermia.
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PMID:Congenital myopathy with cleft palate and increased susceptibility to malignant hyperthermia: King syndrome? 324 76

Two families are presented, each with two affected sibs, all four of whom seem to have a newly described and specific form of congenital contractures (arthrogryposis). The affected subjects have congenital torticollis, dysmorphic, asymmetrical, myopathic facial features, and progressive scoliosis. Two sibs had cleft palate. Malignant hyperthermia has occurred in two of the patients.
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PMID:A recessive form of congenital contractures and torticollis associated with malignant hyperthermia. 334 84

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive syndrome, characterized by severe growth failure and congenital anomalies (for example dysgenesis, mental retardation, renal and cardiac defects, and various malformation). SLOS results from error of a cholesterol enzyme and generalized cholesterol deficiency. This report describes our experience of a patient with SLOS and thrombocytopenia who underwent anesthesia twice for surgical procedures in a year. The patient received drip platelet transfusion for thrombocytopenia before operations. Anesthesia was induced with inhalation of oxygen, nitrous oxide and sevoflurane, and maintained with oxygen, propofol, fentanyl and low concentrations of sevoflurane. Airway was maintained with laryngeal mask airway. Complications were not seen in this case. One of the problems in anesthetic management of SLOS is difficult intubation because of the typical dysmorphic facial features such as micrognathia, cleft palate and abnormal tongue. We thought that laryngeal mask airway was useful and safe for SLOS patients. Two cases of malignant hyperthermia were reported in anesthetic management of SLOS by using halothane or suxamethonium. In this case, the anesthetic maintenance was mostly with propofol and fentanyl. Malignant hyperthermia did not occur but sevoflurane was used at low concentrations. SLOS presents various problems with anesthetic management and we have to administer general anesthesia carefully.
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PMID:[Anesthetic management of a patient with Smith-Lemli-Opitz syndrome complicated with thrombocytopenia]. 1466 77

Native American myopathy (NAM) [OMIM 255995], a putative autosomal recessive disorder, was first reported in the Lumbee Indians of North Carolina. NAM features include congenital weakness and arthrogryposis, cleft palate, ptosis, short stature, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH) provoked by anesthesia. This report documents the phenotypic complexity and natural history of this rare congenital disorder in fourteen individuals with NAM. Findings include a previously unreported 36% mortality by age 18. Based on this study, our conservative estimate for prevalence of NAM within the Lumbee population is approximately 2:10,000; however, birth incidence remains unknown.
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PMID:Native American myopathy: congenital myopathy with cleft palate, skeletal anomalies, and susceptibility to malignant hyperthermia. 1855 14

Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive skeletal dysplasia associated with myotonia. The manifestations of SJS include short stature, blepharophimosis, and skeletal anomalies. The combination of skeletal and muscular abnormalities may result in oro-dental manifestations such as atypical facies, with micrognathia, microstomia, pursed lips, crossbite, cleft palate, as well as mandibular hypoplasia, the risk of dentigerous cysts, and impacted teeth. The use of general anesthesia in patients with SJS is dangerous, as there is a risk of malignant hyperthermia. The purpose of this paper is to describe a 3-year-old Chinese boy diagnosed with SJS at birth. His intra-oral examination revealed significant dental findings such as dentin defects with generalized attrition and hypodontia of the permanent dentition. Comprehensive dental treatment was provided at the same time as lower right limb surgery to reduce the potential complications with general anesthesia.
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PMID:Schwartz-Jampel syndrome: a review of the literature and case report. 2259 33

The aim of this article is to publish a literature review and report on two new cases of Gordon syndrome (GS), a rare syndrome documented to have an autosomal dominant inheritance pattern or to occur sporadically; it is characterized by camptodactyly, cleft palate, and talipes equinovarus. We report two exceptional cases of GS where both patients were also diagnosed with congenital myopathy, and one developed malignant hyperthermia. These are the first two cases reported where patients were diagnosed with both GS and congenital myopathy or where GS is associated with malignant hyperthermia.
Cleft Palate Craniofac J 2015 Jan
PMID:Gordon syndrome: literature review and a report of two cases. 2487 49

Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, ptosis, kyphoscoliosis, talipes deformities, and susceptibility to malignant hyperthermia (MH). Here we present two non-Native American families, who were found to have STAC3 pathogenic variants. The first proband and her affected older sister are from a consanguineous Qatari family with a suspected clinical diagnosis of Carey-Fineman-Ziter syndrome (CFZS) based on features of hypotonia, myopathic facies with generalized weakness, ptosis, normal extraocular movements, cleft palate, growth delay, and kyphoscoliosis. We identified the homozygous c.851G>C;p.Trp284Ser variant in STAC3 in both sisters. The second proband and his affected sister are from a non-consanguineous, Puerto Rican family who was evaluated for a possible diagnosis of Moebius syndrome (MBS). His features included facial and generalized weakness, minimal limitation of horizontal gaze, cleft palate, and hypotonia, and he has a history of MH. The siblings were identified to be compound heterozygous for STAC3 variants c.851G>C;p.Trp284Ser and c.763_766delCTCT;p.Leu255IlefsX58. Given the phenotypic overlap of individuals with CFZS, MBS, and NAM, we screened STAC3 in 12 individuals diagnosed with CFZS and in 50 individuals diagnosed with MBS or a congenital facial weakness disorder. We did not identify any rare coding variants in STAC3. NAM should be considered in patients presenting with facial and generalized weakness, normal or mildly abnormal extraocular movement, hypotonia, cleft palate, and scoliosis, particularly if there is a history of MH.
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PMID:Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. 2877 91