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

Abstract

<span>Pompe disease is an autosomal recessive inherited glycogen storage disease, usually respiratory muscles, cardiac muscle and skeletal muscles are affected in childhood and mortality is inevitable but has a slower progression in the adult. The patient was a</span></a><span><span> </span><span>35</span></span><span><span>-</span><span>year</span></span><span><span>-</span><span>old male patient who was scheduled to undergo <span>ureterorenoscopy due to </span>right<span> ureteral stone. He was diagnosed with pompe disease after detection of myopathy on EMG due to muscle weakness in the </span>legs and hips. He was started on myozyme vials once every 15 days. Spinal anesthesia with 3 ml 0</span></span><span><span>.</span><span>5% hyperbaric bupivacaine was performed and adequate sensorial and motor block was achieves at T₁₀ level. The surgery was completed with no complications and he was discharged two days later. The selection of appropriate anesthetic technique and a careful perioperative and postoperative monitoring are of utmost importance due to progressive muscle weakness, hypotonia, respiratory failure and cardiomyopathy in pompe disease.</span></span><span></span><span></span