The Changing Face of Infantile Pompe Disease: A Report of Five Patients from the UAE.

OBJECTIVE We aim to present our experience with infantile Pompe disease with focus on the impact of availability of treatment on awareness, diagnosis, and management of such patients. METHOD Case - review study of patients diagnosed with infantile Pompe disease and literature search. RESULTS We identified five cases of infantile Pompe disease. The first was diagnosed by muscle biopsy; all others were diagnosed by enzyme assay on peripheral blood lymphocytes or dried blood spot. There was no determination of the CRIM status on these patients. Two have died at a much later age than the reported median age of death for untreated cases. One died very early at 2 months of age with severe cardiomyopathy and had received only one dose of enzyme replacement therapy (ERT). The remaining two surviving patients are siblings: the younger was diagnosed by prenatal ultrasound screening and started on ERT at 24 h of age; she is the youngest treated patient in our case series. CONCLUSION The natural history of infantile Pompe disease is changing, so are the challenges of managing these infants in the post- ERT era. Currently, increased awareness and early access to therapy provide the best outcomes and incur the least shift of burden from mortality to morbidity. Disclosure: Authors have received travel support to attend scientific symposiums by Genzyme. WF has also received consulting fees for speaking in a scientific symposium by Genzyme.