Pompe’s Disease: A rare glycogen storage disorder

Abstract

Pompe’s disease is an autosomal recessive disorder characterized by deficiency of acid alpha-glucosidase resulting in intra-lysosomal accumulation of glycogen and leading to progressive muscle dysfunction. The incidence of the disease is approximately 1 in 140,000 for infantile GSD II and 1 in 60,000 for adult GSD II. A seven months old male child four, kg in weight first product of non-consanguinous marriage full-term normal vaginal delivery presented with complaints of failure to thrive and delayed milestones and poor muscular tone. Electrocardiograph showed prominent R waves along with short PR interval in all leads suggestive of Pompe’s disease Cardiac colour doppler showed biventricular hypertrophy with significant systolic dysfunction and advanced left ventricular diastolic dysfunction along with a small 4mm ostium Secundum atrial septal defect with moderate pulmonary hypertension. Creatine kinase levels were high. Urine showed no myoglobinuria and liver function tests were normal Lysosomal enzyme studies confirmed lysosomal alpha 1,4 glucosidase enzyme deficiency with ratio of 0.16 [normal>0.2], thus establishing the diagnosis of Pompe’s disease.