Pompe Disease With Heterogeneous Presentations Within A Family

Pompe disease is an acid maltase deficiency being part of glycogen storage diseases that affects all age groups. In both childhood and adult forms, the classic clinical picture is that of a progressive myopathy. Respiratory muscle involvement is common, may occur early in the course of the disease, and is the most frequent cause of mortality from acid maltase deficiency. Its association with rhabdomyolysis is rare and with a fatal prognosis. We describe the cases of a family with Pompe disease with a clinical spectrum extending throughout different ages of onset, degrees of organ involvement, and rates of progression. The twin patients with adult form of Pompe disease presented episodes of acute renal failure and respiratory insufficiency with a good outcome.