Calf muscle hypertrophy in late onset pompe's disease

Abstract

Pompe's disease (glycogen storage disease Type 2, acid maltase deficiency) is characterized by a progressive myopathy due to accumulation of glycogen in skeletal muscles in addition to various tissues. Late onset Pompe's disease is characterized by slowly progressive proximal myopathy with respiratory muscle involvement. We present the case of a 16-year-old female presenting with proximal muscle weakness with calf hypertrophy diagnosed to be late onset Pompe's disease. This case highlights the need to consider Pompe's disease in the differential diagnosis of calf muscle hypertrophy, in patients with proximal myopathy even without overt respiratory muscle involvement.

Keywords

• Calf muscle hypertrophy
• glycogen storage disorder
• Pompe's disease
• proximal myopathy