Regional anesthetic techniques are an alternative to general anesthesia for infants with Pompe's disease

Abstract

Pompe's disease or glycogen storage disease type II is a genetic disorder affecting skeletal and cardiac muscle. The infantile form is associated with gross hypertrophic cardiomegaly and death in the early years. General anesthesia is associated with potential major morbidity in these patients. We present our experience of regional anesthetic blocks used in five patients with the infantile form of glycogen storage disease type II with and without sedation for 11 surgical procedures during a clinical trial of replacement therapy for this condition. Both femoral nerve blockade and caudal epidural blockade were used with good result. The relative merits of the type of block are discussed in addition to the choice of sedation and risks of general anesthesia. The avoidance of general anesthesia in the newly presenting patient with Pompe's disease may reduce potential morbidity until enzyme replacement has been established.

Ureterolithotripsy under Spinal Anesthesia in Pompe Disease (Glycogen Storage Disease Type 2): A Case Report

“…The authors concluded that propofol or high concentrations of sevoflurane should be avoided in the anesthetic management of patients with pompe disease and instead, an agent such as ketamine should be used in order to support coronary perfusion for induction and to avoid decreasing diastolic blood pressure with vasolidatory agents. On the other hand some authors suggest to prefer regional anesthesia in patients with pompe disease because of the potential problems associated with general anesthesia [9]. Walker et al [9] performed femoral nerve block or caudal epidural block in five patients with infantile form of pompe disease for 11 quadriceps biopsies.…”

“…On the other hand some authors suggest to prefer regional anesthesia in patients with pompe disease because of the potential problems associated with general anesthesia [9]. Walker et al [9] performed femoral nerve block or caudal epidural block in five patients with infantile form of pompe disease for 11 quadriceps biopsies. The authors suggested that regional anesthesia techniques in this highrisk group are a good alternative for some surgical procedures.…”

Perioperative management of patients with genetic multisystem diseases associated with pre‑excitation

“…Notably, all arrhythmias occurred under propofol or sevoflurane anaesthesia [25]. Based on complications they encountered, other authors also suggest that propofol should be used with caution or avoided [31,34], while ketamine exhibits a more favorable profile [25,30,31,34].…”

“…Regional anaesthetic techniques have been advocated [27,32], especially in parturients undergoing caesarean delivery [35,36]. Successful labour epidural analgesia [37], peripheral nerve blocks for muscle biopsies [34,38], and patient-controlled epidural analgesia [27] have also been reported. Caution is needed, especially with spinal local anaesthetics and subsequent intense sympathetic block; a phenylephrine infusion for maintenance of systemic vascular resistance, and consequently blood pressure, seems useful [36].…”

“…Preload, afterload, inotropy and anaesthetics should be titrated according to the cardiac disease [15]. Adequate hydration to ensure optimal ventricular filling and maintenance of peripheral vascular resistance are mandatory for avoiding hypotension and coronary hypoperfusion in patients with hypertrophic cardiomyopathy [25,28,34]. Arrhythmogenic or triggering factors such as stress, fever, pain, intravascular volume depletion/haemorrhage, light anaesthesia and hypercarbia should be avoided [24,27,31].…”