Two cases of Pompe's disease: case report and review of literature

Abstract

Glycogen storage disease type II (also called Pompe's disease or acid maltase deficiency) is an autosomal recessive metabolic disorder which causes an accumulation of glycogen in the lysosomes due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be identified in 1932. The build-up of glycogen causes progressive muscle weakness (myopathy) throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver, and nervous system. We are presenting two cases of infantile form of Pompe's disease with secondary hypertrophic cardiomyopathy (CMP). The first case was a 1-year-old female child who presented with Ross Class III heart failure (HF) of 3 months duration. Echocardiography (ECHO) showed concentric left ventricular (LV) hypertrophy, with the posterobasal segment more hypertrophic than the inter-ventricular septum and moderate pericardial effusion. The second case was a 2-month-old male child who presented with Ross Class II HF. His ECHO showed eccentric hypertrophy of the posterobasal left ventricle, with thickening of the mitral valve leaflets and the chordae with Grade I mitral regurgitation (MR). Both children were diagnosed to have Pompe's disease by blood alpha-glucosidase assay.

Figure 1

Case 1: (A) Electrocardiogram showing short PR interval and left ventricular (LV) hypertrophy. (B) Chest radiograph. (C) Electrocardiogram image: parasternal long axis view, showing eccentric LV hypertrophy of posterior wall. (D) M-mode image at mitral valve level, showing thickened mitral valve and chordae.

Figure 2

Echocardiogram images of Case 2. (A) Three-dimensional images showing left ventricular (LV) hypertrophy. (B) M-mode image at papillary muscle level showing eccentric LV hypertrophy involving postero-basal wall. (C) M-mode image at mitral valve level showing thickened mitral leaflets. (D) Parasternal long axis view, showing thickened mitral valve leaflets. (E) Colour Doppler image showing Grade I mitral regurgitation.