Infantile Pompe disease: Clinical picture, diagnosis, and treatment

Abstract

Pompe disease is a rare inherited disease that belongs to lysosomal accumulation diseases and can be considered as cardiac glycogenosistype II, as well as a severe neuromuscular disease or metabolic myopathy. Physicians of different specialties very rarely identify this pathology, which is due to both its rarity and clinical and genetic polymorphism. Infantile Pompe disease is the severest form. It is characterized by a progressive pattern and a fatal outcome during the first year of life. The possibility of performing enzyme replacement therapy for this disease, which can improve the prognosis and quality of life of patients, makes the early diagnosis of Pompe disease urgent. The paper describes the clinical presentation of infantile Pompe disease and current methods for its diagnosis and treatment. The authors give their experience in diagnosing and treating infantile Pompe disease, by demonstrating 3 cases of the disease. The characteristics of each infant, which confirm the clinical and genetic variety of this pathology, are discussed.

Keywords

• pompe disease
• infantile form
• enzyme activity
• mutations
• enzyme replacement therapy