Introduction Classic infantile pompe disease is an autosomal recessive inherited disorder caused by a deficiency of alpha 1–4 glucosidase, resulting in accumulation of glycogen in skeletal muscle and heart. It’s characterised by hypotonia, cardiomegaly and hypertrophic cardiomyopathy, feeding difficulties and respiratory distress, all patients died in the first year of life.
Patients and methods A retrospective study of cases of classic infantile pompe disease collected in the Department of Paediatrics, Hospital Hedi Chaker, Sfax over a period of 7 years (2008–2013).
Results During the study period we collected 8 cases of the disease. The average age at diagnosis was 3 months and 6 days.
All patients were eutrophic. Hypotonia was noted in all cases, Respiratory distress in seven cases, cyanosis in 4 cases and a systolic murmur in 5 cases. Hepatomegaly was constant, macroglossia was noted in one patient. Chest radiography showed cardiomegaly in all cases. Electrocardiogram, showed electrical signs of left ventricular hypertrophy, wide QRS complex, a shortening of the PR interval was seen in 4 cases. Echocardiography confirmed diagnosis of hypertrophic cardiomyopathy. The dosage of acid maltase activity practiced in 5 patients, showed no enzyme activity. The genetic study of 4 patients showed a mutation in the homozygous state of the GAA gene. Treatment was purely symptomatic involving propranolol, oxygen and antibiotics. All patients died.
Conclusion The fatal evolution of the classic infantile form of Pompe disease is being changed by the advent of enzyme replacement therapy wich significantly increased the survival of these patients.