Paediatric anaesthesia
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Paediatric anaesthesia · Sep 2013
ReviewCore myopathies and malignant hyperthermia susceptibility: a review.
The core myopathies are a subset of myopathies that present in infancy with hypotonia and muscle weakness. They were formerly considered a rare type of congenital myopathy but are now recognized as being more prevalent. Due to their genetic linkage to mutations in the ryanodine receptor gene (RYR1), core myopathies (in particular, central core disease) carry a high risk of malignant hyperthermia susceptibility. ⋯ We also review the level of suspicion a clinician should exhibit with a child who has a possible core myopathy or other congenital myopathy presenting for an anesthetic prior to a definitive genetic analysis. For this review article, we performed literature searches using the key words anesthesiology, core myopathies, pediatric neurology, malignant hyperthermia, genetics, ryanodine receptor, and molecular biology. We also relied on literature accumulated by the two authors, who served as hotline consultants for the Malignant Hyperthermia Hotline of the Malignant Hyperthermia Association of the United States (MHAUS) for the past 12 years.
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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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Paediatric anaesthesia · Sep 2013
ReviewPerioperative respiratory management of pediatric patients with neuromuscular disease.
Patients with neuromuscular disorders undergoing general anesthesia present a special set of respiratory problems for perioperative management. While there are disease-specific concerns, there are many common themes in the respiratory management of patients with neuromuscular disorders. ⋯ Such common perioperative concerns include upper airway obstruction, chest wall restriction, postoperative hypoventilation, inadequate airway clearance, and chronic lower airway disease. Each of these challenges has an effective management approach, and careful planning can help avoid perioperative respiratory complications.
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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.