ENZYME REPLACEMENT THERAPY FOR INFANTILE-ONSET POMPE DISEASE: CURSE OR CURE?

Abstract

Pompe disease is a rare progressive autosomal recessive disorder caused by a deficiency of lysosomal hydrolase acid α-glucosidase.1 This results in accumulation of glycogen in the lysosomes of all tissues, particularly cardiac and skeletal muscle. Historically, infantile-onset Pompe presents with cardiomegaly, hepatomegaly, weakness, and hypotonia leading to death due to cardiorespiratory failure in the first year of life.2 The efficacy for specific enzyme replacement therapy (ERT) for Pompe disease has recently been reported in a cohort of infant onset Pompe patients. Eighteen children under the age of 6 months were given ERT and all survived. However, none were ventilated; ventilator dependency was an exclusion criterion for the study.3 We report two cases of infantile Pompe disease requiring mechanical ventilation while receiving ERT. ### Case 1. A 3-month-old boy was referred with cardiorespiratory failure. At 4 weeks a systolic murmur was heard, and cardiomegaly on X-ray and biventricular hypertrophy on ECG were observed. Echocardiography revealed poor contractility and severe left ventricle hypertrophy. Muscle biopsy showed vacuolated lymphocytes containing glycogen and …