Infantile Pompes disease in a female neonate with significant family history: A case report

Pompes disease is a rare metabolic myopathy of autosomal recessive inheritance. It is caused by the deficiency of lysosomal enzyme acid alpha-glucosidase, which results in lysosomal and cytoplasmic glycogen accumulation. A wide spectrum of disease exists, varying from hypotonia and severe hypertrophic cardiomyopathy in infancy, to a milder form which manifests in adulthood. In either condition, the involvement of several systems leads to progressive weakness and disability. We report a six month old female infant who presented with hypotonia, developmental delay and hypertrophic cardiomyopathy. Significantly elevated CPK and LDH levels coupled with reduced acid α glucosidase activity, confirmed the diagnosis of Infantile Pompes disease. This infant had recurrent respiratory infections, failure to thrive and succumbed to death, due to hypertrophic cardiomyopathy at one year of age. The younger sibling was a carrier for pompes disease and there was a family history of hypertrophic cardiomyopathy.