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

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.

SUBMITTER: Fathalla W

PROVIDER: S-EPMC3565631 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature

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

Fathalla Waseem W Ahmed Elamin E

JIMD reports 20120520

<h4>Objective</h4>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.<h4>Method</h4>Case - review study of patients diagnosed with infantile Pompe disease and literature search.<h4>Results</h4>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 s ...[more]

PMID: 23430513

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Project description:We report the clinical course of the first prenatally diagnosed cross-reactive immunologic material (CRIM)-negative infantile Pompe disease (IPD) patient [homozygous for c.2560C>T (p.Arg854X) variant in the GAA gene] to undergo prophylactic immune tolerance induction (ITI) and enzyme replacement therapy (ERT) within the first 2 days of life. Both parents were found to be carriers of the c.2560C>T (p.Arg854X) variant through prenatal carrier screening. Fetal echocardiogram at 31 weeks of gestation showed left ventricular hypertrophy. An echocardiogram on the 1st day of life revealed marked biventricular hypertrophy. Physical exam was significant for macroglossia and hypotonia. A short course of Prophylactic ITI with rituximab, methotrexate, and intravenous immunoglobulin (IVIG) in conjunction with ERT at a dose of 20 mg/kg every other week was started on day 2 of life. The patient completed the ITI protocol safely and complete B-cell recovery, based on CD19 count, was noted by 3 months of age. The patient never developed anti-rhGAA IgG antibodies to ERT. Vaccinations were initiated at 9 months of age, with adequate response noted. Complete recovery of cardiac function and left ventricular mass was seen by 11 weeks of age. At 8 months of age, the patient developmentally measured at 75-90% on the Alberta Infant Motor Scale, walked at 11 months and continues to develop age-appropriately at 50 months of age based on the Early Learning Accomplishment Profile. ERT dosing was increased to 40 mg/kg every 2 weeks at 32 months of age and frequency increased to 40 mg/kg every week at 47 months of age. Patient continues to have undetectable antibody titers, most recently at age 50 months and urine Hex4 has remained normal. To our knowledge, this is the first report of successful early ERT and ITI in a prenatally diagnosed CRIM-negative IPD patient and the youngest IPD patient to receive ITI safely. With the addition of Pompe disease to the Recommended Uniform Screening Panel(RUSP) and its addition to multiple state newborn screening programs, our case highlights the benefits of early diagnosis and timely initiation of treatment in babies with Pompe disease, who represent the most severe end of the disease spectrum.

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

Publications

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

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