Research Report

JIMD Reports - Case and Research Reports, 2012/5

Volume 8 of the series JIMD Reports pp 7-10

Date:

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

  • Waseem FathallaAffiliated withDivision of Pediatric Neurology, Pediatric Institute, Sheikh Khalifa Medical City Email author 
  • , Elamin AhmedAffiliated withDivision of Pediatric Neurology, Pediatric Institute, Sheikh Khalifa Medical City

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Abstract

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.