2019 FSA Posters

P035: GENERAL ANESTHESIA & MAC SEDATION: CASE REPORT OF TWO DIFFERENT ANESTHETIC APPROACHES IN AN INFANT WITH POMPE DISEASE
Ana Mavarez, MD, Yanisleidy Paez, MD, MPH, Eliane Varga, MD, Lydia Jorge, MD; University of Miami

INTRODUCTION: Pompe Disease (PD) or type II Glycogen storage disease is an autosomal recessive disorder from a mutation in GAA gene coding for lysosomal enzyme acidα-1,4-glucosidase, resulting in accumulation of glycogen in the lysosomes and cytoplasm of tissues, especially in skeletal muscle, liver, and heart. Infantile onset PD (<12 months) presents early in life with hypotonia, respiratory distress, muscle weakness, hypertrophic cardiomyopathy and failure to thrive, followed by death from cardiorespiratory failure by 1 year of age. Incidence is estimated 1:40,000. 1

CASE REPORT: A 5-month old female, 5.4 kg was transferred from St. Thomas to Holtz Children's Hospital with diagnosis of heart failure. Echo showed cardiomyopathy with EF 35%, concentric biventricular hypertrophy, PFO with left to right shunt, moderate MR, and no evidence of LVOT obstruction. A urine screening test was positive for oligosaccharides with blood analysis showing decreased GAA enzyme activity, confirming diagnosis of PD. The treatment plan was enzyme replacement therapy (ERT) with Alglucosidase-alfa every 2 weeks.

Patient was scheduled for port placement and laparoscopic G-tube placement under two separate anesthetics: MAC and GETA respectively. MAC was achieved via PIV with 0.5mg of midazolam, boluses of 1mg/kg of ketamine (27mg total), and lidocaine infiltration by surgeon. Procedure was uneventful. After 2 weeks of ERT therapy, EF improved to 42% and she underwent G-tube placement under GETA. After induction with etomidate, fentanyl, and rocuronium via chest port, DL was unsuccessful and intubation required videolaryngoscopy on third attempt. Subsequently became hypotensive (MAP of 45) resolving after IVF boluses, 10mcg of phenylephrine, and 2 doses of 1mcg epinephrine. She remained intubated due to hypotonia and difficult intubation, transferred to PICU stable without inotropic support and extubated several hours later without complications.

DISCUSSION: Anesthetic management in PD patients can be challenging due to difficult airways, cardiac decompensation, and muscle weakness. Choosing between MAC vs GETA should be carefully considered; however, surgical requirements may necessitate one versus the other. 2 Anesthetic agents should be selected to avoid myocardial depression. Obstructive cardiomyopathy requires maintaining normal cardiac filling pressures and preload, avoiding tachycardia, and peripheral vasodilation. Congestive cardiomyopathy necessitates adequate filling pressures, contractility and reduced afterload.

CONCLUSION: Multidisciplinary team approach is needed in PD. A comprehensive perioperative cardiac and pulmonary assessment is paramount in infants with PD. Patient’s cardiac function influences the choice of anesthetic approach. The anesthesiologist must prepare for a difficult intubation given severe hypotonia and macroglossia, possible arrhythmias and hemodynamic instability due to LVOT obstruction. Airway equipment and emergency medications should be readily available. Additionally, postoperative mechanical ventilation from residual muscle relaxant weakness may be necessary.

REFERENCES:

1. Kishnani and Howell. Pompe disease in infants and childrens. J Pediatr 2004;144:S35-S43

2. Bosman, L; Hoeks, S. Perioperative management of children with glycogen storage disease type II—Pompe disease. Paediatric Anaesthesia, 2018; 28(5) 428-435