1. Adult-Onset Pompe Disease with Significant Functional Decline after Prolonged Hospitalization: A Case Report Kristen T. McCormick, DO 1,2, Alan Anschel, MD 2 1 Northwestern University / Feinberg School of Medicine, Chicago, Illinois; 2 Rehabilitation Institute of Chicago, Chicago, Illinois Contact Information: Kristen T. McCormick, DO kmccormick@ric.org | Alan Anschel, MD aanschel@ric.org Conclusion Case Diagnosis Pompe disease is a glycogen storage disease, which is a metabolic disorder affecting lysosomes. 2 Juvenile/adult-onset Pompe disease results in intralysosomal accumulation of glycogen that is limited primarily to skeletal muscle, resulting in progressive muscle weakness. The onset can be as early as the first decade of childhood or as late as the sixth decade of adulthood. The primary symptom is muscle weakness progressing to respiratory weakness and death from respiratory failure over several years. 1 Enzymatic replacement therapy can prolong ventilator-free life, stabilize the otherwise progressive disease course, improve physical endurance and improve overall quality of life. 3 1.Independence Blue Cross. Medicare Advance Policy. 2015 2/11/2015 8/28/2015]; Alglucosidase alfa (e.g. Myozyme, Lymizyme)]. Available from: http://medpolicy.ibx.com/policies/MedAdvMPI.nsf/6a827f8172ac2f8185257d3 100532b7a/85257d39006e794585257d6c006ee84d!OpenDocument. 2.Samuelson, G. Pompe Disease. 2014 August 28, 2015]; Available from: https://www.socialstyrelsen.se/rarediseases/pompedisease. 3.Vielhaber, S., et al., 24-months results in two adults with Pompe disease on enzyme replacement therapy. Clin Neurol Neurosurg, 2011. 113(5): p. 350-7. Patients with slowly progressive lysosomal storage diseases are rare but become significantly debilitated by conditions that benefit from the multifaceted collaborative approach taken by IRF facilities. Enzymatic supplementation alongside therapeutic exercise is important to the IRF course to promote progression of functional tasks in patients with chronic lysosomal storage diseases and multiple ongoing comorbidities. Coordination with infusion centers or infusion specialists may be necessary if the IRF is unable to provide the specialized monitoring required during treatment. Adult-Onset Pompe Disease in Acute Inpatient Rehabilitation (AIR) Case Description References Patient with 15-year history of Pompe Disease resulting in progressive restrictive lung disease and chronic respiratory failure was admitted to acute care for lower extremity Pyoderma Gangrenosum complicated by sepsis and acute on chronic respiratory failure requiring prolonged mechanical ventilation. He required intermittent Mysozyme infusions prior to hospitalization but did not receive the infusions while critically ill. He was transferred to an inpatient rehabilitation facility (IRF) totally dependent for all functional tasks. He was limited primarily by proximal muscle weakness and rapid respiratory decompensation with minimal exertion without mechanical ventilation. He was restarted on biweekly infusions of Myozyme and participated in a comprehensive rehabilitation program. Following one month of IRF with Mysozyme infusions and intelligent Volume Assured Pressure Support (iVAPS), the patient tolerated more strenuous functional tasks, no longer requiring mechanical ventilation. He improved to Mod-Max Assist for many tasks and was discharged home with family and ongoing home health care with therapies. Shortly after discharge home, family admitted patient into assisted living facility for increasing burden of care and nursing assistance. Family wished for hospice care, but patient wished for ongoing aggressive treatment. Discussion AIR admissionAIR discharge Bed/Chair Transfers Total Assist with Lift Moderate Assist with Slide Board Dressing Total AssistModerate Assist Grooming Total AssistClose Supervision Bathing Total AssistMaximum Assist Table 1. Function and symptoms of case patient at the beginning and end of 26 days of acute inpatient rehabilitation. Discussion Figure 1. Pompe Disease prevents glycogen breakdown into glucose. This build up of glycogen ultimately leads to muscle cell death 3.