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)

First described in 1960, malignant hyperthermia (MH) is a relatively rare disorder of muscle metabolism triggered by specific anesthetic agents and presenting as a rapidly evolving intraoperative crisis. The syndrome is more prevalent among children (1/15,000 exposures to anesthesia) than adults (1/50,000 exposures), but has not been thought to occur in children younger than 1 year of age. This is a case report of a 3-month-old, 4.85 kg white male infant who developed MH while undergoing repair of a right inguinal hernia. The case is unique not only with respect to the age of the patient but also with the extremely elevated creatine phosphokinase (CPK) 13 hours postoperatively.
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PMID:Malignant hyperthermia in a 3-month-old infant: a case report. 887 Apr 51

A 53-year-old woman diagnosed as having hereditary motor-sensory neuropathy Charcot-Marie-Tooth (CMT) disease Type 2, underwent inguinal hernia surgery. In this patient CMT disease was manifested as distal muscle weakness and wasting. Anaesthetic experience with patients who have CMT disease is limited. Association to malignant hyperthermia is very unlikely although there is one case report that shows that there could be a relationship. We describe a total intravenous anaesthesia (TIVA) protocol with propofol and alfentanil without any muscle relaxants after fiberoptic intubation. The patient made an uneventful recovery and was discharged from the hospital on the fourth postoperative day. TIVA was a safe technique in this patient and should be considered as an alternative for patients presenting with CMT disease.
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PMID:[The hereditary motor-sensory neuropathy Charcot-Marie-Tooth disease: anesthesiologic management--case report with literature review]. 1170 26