Volatile anesthesia for a child with LPIN1 gene mutation and recurrent rhabdomyolysis
Pediatric Anesthesia, EarlyView.
Abstract Malignant hyperthermia (MH) is a rare, heterogenic syndrome leading to potentially life-threatening skeletal muscle hypermetabolism following exposure to inhalational anesthetics and succinylcholine. In more than 50% of affected individuals a pathogenic variant in the RYR1 gene coding for the sarcoplasmic reticulum calcium channel is responsible for the underlying pathology of uncontrolled calcium liberation. While the genetic prevalence of MH is as high as 1 : 2750, the incidence of clinical MH reactions is considerably lower, suggesting a dominant pattern of inheritance with incomplete penetrance. D...
Malignant hyperthermia (MH) is classically described as an autosomal dominant myopathy involving type 1 ryanodine receptor (RYR1), which predisposes affected individuals to potentially life-threatening sequela when exposed to volatile anesthetics or depolarizing skeletal muscle relaxants, such as succinylcholine. In cases where malignant hyperthermia or anesthetic induced rhabdomyolysis (AIR) is triggered, significant morbidity and often mortality can result. In an ambulatory anesthetic setting, family history of malignant hyperthermia and history of anesthetic-related events is typically utilized to screen out susceptible individuals.
Limb-girdle muscular dystrophies (LGMDs) belong to few neuromuscular disorders mainly involving pelvic and shoulder girdle muscles. Also, cardiac or pulmonary complications, increased rhabdomyolysis risk when ...
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This report describes the consensus process and the outcomes for each of the foregoing unanswered clinical questions. PMID: 30768455 [PubMed - as supplied by publisher]
Publication date: Available online 5 February 2019Source: Journal of American Association for Pediatric Ophthalmology and StrabismusAuthor(s): Anne-Marie Leo, Mark J. McVey, Megumi Iizuka, Michael D. Richards
Mutations in RYR1, the gene encoding the sarcoplasmic reticulum (SR) type 1 ryanodine receptor (RyR1), have emerged as the most common genetic cause of non-dystrophic neuromuscular disorders in recent years. RYR1 mutations give rise to a wide variety of myopathies presenting throughout life , ranging from early-onset congenital myopathies (for review, Jungbluth et al. ) to episodic manifestations in adulthood such as exertional rhabdomyolysis (RM), malignant hyperthermia during anesthesia with susceptibility proven by an in vitro contracture test (MH) and periodic paralysis  in otherwise healthy individuals.
Abstract An 8-year-old, spayed female Chihuahua mixed breed dog was presented for dyspnea and was subsequently mechanically ventilated. Propofol was utilized as part of the anesthetic protocol. The dog developed rhabdomyolysis, myoglobinuria, cardiac arrhythmias, liver enzyme elevation, and methemoglobinemia. Propofol was discontinued and N-acetylcysteine was administered after which the clinical signs resolved. PMID: 30410181 [PubMed - in process]
Publication date: Available online 25 September 2018Source: Egyptian Journal of AnaesthesiaAuthor(s): Bo-Ra Kim, Young-Bok Lee, Su-Jin Kim, Young-Wan KimAbstractAmyotrophic lateral sclerosis, which is also known as motor neuron disease, is a chronic neurodegenerative disease characterized by progressive muscular weakness, respiratory muscle disability, and eventual death. Previous epidemiologic studies have shown no association between cancer and amyotrophic lateral sclerosis. Colorectal cancer arising in patients with amyotrophic lateral sclerosis has rarely been reported. Here, we report a case involving rectal cancer ar...