Delayed Onset of Malignant Hyperthermia without Creatine Kinase Elevation in a Geriatric, Ryanodine Receptor Type 1 Gene Compound Heterozygous Patient

Abstract

believe it is unlikely that a blood vessel would be entered during epiduroscopy.We conclude that direct vascular entry of substances during attempted epidural injections can occur without the delivery device (needle, catheter, epiduroscope) in the vessel. . Information on purchasing reprints may be found at www.anesthesiology.org or on the masthead page at the beginning of this issue. ANESTHESIOLOGY's articles are made freely accessible to all readers, for personal use only, 6 months from the cover date of the issue. 350CASE REPORTS

Malignant Hyperthermia Like Manifestations during Management of Refractory Status Epilepticus

“…MH is an inherited disorder of the skeletal muscle where abnormal calcium homeostasis occurs in response to triggers such as succinylcholine and volatile inhalation anesthetic agents. It can have a highly variable clinical presentation and delayed onset 2 3 4 making definitive diagnosis challenging.…”

“…Delayed presentation of MH has been reported previously with isoflurane where the duration of onset was around 5 hours. [2][3][4] All patients survived following administration of dantrolene sodium, the drug of choice for MH. However, there are reports of complete recovery in few cases without use of dantrolene.…”

Bayesian Modeling to Predict Malignant Hyperthermia Susceptibility and Pathogenicity of RYR1 , CACNA1S and STAC3 Variants

“…These findings demonstrate the need for complete sequencing of RYR1, and preferably all three of these genes, in an MH proband, as opposed to targeted sequencing restricted to specific loci. Relatives who could be identified as MHS by genetic testing might conclude that they are not at increased risk of MH if only one exon of RYR1 was to be examined for a familial mutation [38,55]. If full sequencing of the genes known to be associated with MH is performed for the first degree relatives of probands, then those with one of the two variants found in the proband will be identified.…”

Future Directions in Malignant Hyperthermia Research and Patient Care

“…Furthermore, reports of MHS patients and families who harbor more than one RyR1 variant 39,43,46 lead us to question how the clinical expression of MH may be altered by the presence of more than one RyR1 variant. Is there a synergistic effect of these variants, leading to the preferential expression of MH susceptibility in certain individuals?…”