Pompe disease (PD) is a type II glycogen storage disease, characterised by abnormal glycogen deposition, mainly in heart and skeletal muscles, leading to progressive loss of muscle function. The infantile variety is associated with severe hypertrophic cardiomyopathy and generally do not reach adulthood. The juvenile variety presents with progressive muscle weakness and respiratory failure. Anaesthetic management concerns in the patient reported here were mainly due to respiratory failure, myopathy and sensitivity to muscle relaxants and significant haemodynamic changes perioperatively. We successfully managed a 13-year-old girl with juvenile PD on respiratory support scheduled for thoracolumbar kyphoscoliosis corrective surgery. Ketamine and dexmedetomidine were used for induction of anaesthesia and maintenance. Muscle relaxants were diligently avoided in this case.
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