Paediatric anaesthesia
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Paediatric anaesthesia · Sep 2013
Review Case ReportsMcArdle's disease (glycogen storage disease type V) and anesthesia - a case report and review of the literature.
McArdles disease (glycogen storage disease type v) is a rare condition in which energy-metabolism in the muscle is hampered. A case report is presented and the possible risk for perioperative complications including malignant hyperthermia is discussed. A checklist for the anesthesiological management of patients with McArdles disease is provided. A short overview of anesthesiological challenges and perioperative complications of other glycogen storage diseases is given.
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Paediatric anaesthesia · Sep 2013
ReviewAnesthetic considerations in patients with mitochondrial defects.
Mitochondrial disease, once thought to be a rare clinical entity, is now recognized as an important cause of a wide range of neurologic, cardiac, muscle, and endocrine disorders. The incidence of disorders of the respiratory chain alone is estimated to be about 1 per 4-5000 live births, similar to that of more well-known neurologic diseases. High-energy requiring tissues are uniquely dependent on the energy delivered by mitochondria and therefore have the lowest threshold for displaying symptoms of mitochondrial disease. ⋯ Mitochondrial disease represents probably hundreds of different defects, both genetic and environmental in origin, and is thus difficult to characterize. The specter of possible delayed complications in patients caused by inhibition of metabolism by anesthetics, by remaining in a biochemically stressed state such as fasting/catabolism, or by prolonged exposure to pain is a constant worry to physicians caring for these patients. Here, we review the considerations when caring for a patient with mitochondrial disease.
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Spinal muscle atrophy (SMA) is autosomal recessive and one of the most common inherited lethal diseases in childhood. The spectrum of symptoms of SMA is continuous and varies from neonatal death to progressive symmetrical muscle weakness first appearing in adulthood. The disease is produced by degeneration of spinal motor neurons and can be described in three or more categories: SMA I with onset of symptoms before 6 months of age; SMAII with onset between 6 and 18 months and SMA III, which presents later in childhood. Genetics: The disease is in more than 95% of cases caused by a homozygous deletion in survival motor neuron gene 1 (SMN1). ⋯ The perioperative risks can be considerable and are mainly related to the respiratory system, from respiratory failure to difficult/impossible intubation.
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Paediatric anaesthesia · Sep 2013
ReviewUnexpected MH deaths without exposure to inhalation anesthetics in pediatric patients.
Children, later found to have ryanodine receptor type one variants (RYR1), died without exposure to inhalation anesthetics. Family members with the same RYR1 variants had contracture tests consistent with susceptibility to malignant hyperthermia or in vitro testing showed increased sensitivity to RYR1 agonist.
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Paediatric anaesthesia · Sep 2013
ReviewPerioperative temperature elevation: not all hyperthermia is malignant hyperthermia.
The objective of this review is to assist the readers, anesthesiologists, intensivists, and emergency physicians in making a more accurate diagnosis of perioperative fever or hyperthermia and subsequently choose the proper course of treatment. ⋯ A literature search was performed which identified many possible common and uncommon sources of fever. Some of these sources are quite relevant to the anesthesiologist. Other sources had potential relevance in obscure cases.