Résumé :
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Introduction: Pompe disease (PD), is caused by a deficiency of the enzyme lysosomal, acid-glucosidase (GAA) resulting in the accumulation of glycogen primarily in muscle tissue. The clinical presentation of (PD) is variable with respect to the age of onset and rate of disease progression. Patients with onset of symptoms in early infancy typically exhibit rapidly progressive hypertrophic cardiomyopathy and marked muscle weakness. Most of these infants die within the first year of life from cardiac and/or respiratory failure. In the majority of cases of (PD), onset of symptoms occurs after infancy, ranging widely from the first to sixth decade of life. Progression of the disease is relentless and patients eventually progress to loss of ambulation and death due to respiratory failure The aim of this study was to characterize the clinical presentation of patients with late-onset Pompe disease. Patients and methods: During the period 2001- 2006 we diagnosed 04 adult cases of (PD). All patients profited from a complete clinical examination, electromyographic study, a systematic proportioning of muscular enzymes (CPK, LDH), muscular biopsy, hepatic assessment, abdominal and heart echography, pulmonary function testing (PFT) and leucocytic proportioning of acid maltase. Results: Four late-onset Pompe disease (PD) patients were included in this study. The average age of the first symptoms was 22 years, muscle weakness has interested upper and lower extremity proximal in all cases, Three patients (patients 2, 3, and 4) also suffered from frequent respiratory infections with a death following a respiratory insufficiency. The muscular enzymes and the hepatic assessment were disturbed at 03 patients The diagnosis was confirmed by leucocytic proportioning of acid maltase. Conclusion: The clinical presentation of late-onset (PD) is heterogeneous and resembles that of other myopathies, therefore definitive diagnosis needs to be confirmed by biochemical or molecular methods.
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