Abstract
Background The family under investigation consists of parents and two daughters, one being the proband. The mother and the proband have elongated facial features. The father and second daughter appear normal. The older daughter presented for elective tonsillectomy aged 8 years. She had severe masseter spasm after suxamethonium. The rest of the procedure was carried out under total intravenous anaesthesia. No blood gas analysis could be done, but a creatine kinase next day was significantly elevated (2934). This led to study of both parents. There was no family history of malignant hyperthermia but an undefined myopathy was suspected in mother and daughter. Both mother and father were diagnosed malignant hyperthermia (MH) susceptible by in vitro contracture test (IVCT). This prompted a DNA analysis for variants associated with MH.
Highlights
The family under investigation consists of parents and two daughters, one being the proband
There was no family history of malignant hyperthermia but an undefined myopathy was suspected in mother and daughter
The mother and both daughters carry a premature stop codon in ryanodine receptor subtype 1 (RYR1) as well an uncharacterized RYR1 variant inherited from the father
Summary
The family under investigation consists of parents and two daughters, one being the proband. The older daughter presented for elective tonsillectomy aged 8 years. She had severe masseter spasm after suxamethonium. No blood gas analysis could be done, but a creatine kinase day was significantly elevated (2934) This led to study of both parents. There was no family history of malignant hyperthermia but an undefined myopathy was suspected in mother and daughter. Both mother and father were diagnosed malignant hyperthermia (MH) susceptible by in vitro contracture test (IVCT). This prompted a DNA analysis for variants associated with MH
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