Abstract

AMARTINO, Hernán M.  and  CAVAGNARI, Brian M.. Enzyme replacement therapy in the infantile form of Pompe disease: Argentinean experience in a seven-year follow up case. Arch. argent. pediatr. [online]. 2012, vol.110, n.4, pp.323-327. ISSN 0325-0075.

The infantile form of Pompe disease drives children to death before the first year of life due to cardiomyopathy and respiratory insufficiency. We present the seven-year follow-up experience with enzyme replacement therapy on a child with Pompe disease, being the longest follow-up in the country. The treatment was well tolerated without adverse reactions. The echocardiographic and electrocardiographic parameters clearly improved during the first year and remain stable. Motor milestones (like rolling over or sitting down without support) were initially achieved, but, after the third year were getting lost. The average age of ventilator dependence was also delayed (16 months). The 7-year old patient remains alive with severe generalized muscle weakness. The child notably overcame the average age of survival and onset of ventilator dependence. Although the cardiovascular improvement was clear, enzyme replacement therapy efficacy on skeletal muscle was limited in this patient.

Keywords : Pompe disease; Enzyme replacement therapy; Acid alphaglucosidase; Argentina; Myozyme^®.

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