Neuromuscular disorders : NMD
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Neuromuscul. Disord. · Sep 2001
Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families.
Malignant hyperthermia is a pharmacogenetic disorder associated with mutations in Ca(2+) regulatory proteins. It manifests as a hypermetabolic crisis triggered by commonly used anesthetics. ⋯ The same A2350T mutation was identified in an Argentinean family with two known fatal MH reactions. Functional analysis in HEK-293 cells revealed an altered Ca(2+) dependence and increased caffeine sensitivity of the expressed mutant protein thus confirming the pathogenic potential of the RYR1 A2350T mutation.
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Neuromuscul. Disord. · Sep 2001
Case ReportsVecuronium-associated axonal motor neuropathy: a variant of critical illness polyneuropathy?
Neuromuscular blocking agents are routinely used as an adjunct therapy for critically ill patients. Unlike many neuromuscular blocking agents, vecuronium does not cause significant histamine release, which may lead to bronchoconstriction. ⋯ We report a case of an 8-year-old girl who had a primarily motor axonopathy presenting with weakness after extended vecuronium administration with prolonged course of recovery. This primarily motor neuropathy with axonal features may be a variant of critical illness polyneuropathy, a rarely reported condition in pediatric patients.