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Archivos argentinos de pediatría

Print version ISSN 0325-0075On-line version ISSN 1668-3501


KINGSTON, Constanza P. C.; SABIO PAZ, Verónica  and  SOLANA, Claudio L.. Miocardiopatía hipertrófica neonatal: una forma de presentación clínica de la enfermedad de Pompe. Arch. argent. pediatr. [online]. 2006, vol.104, n.5, pp.438-440. ISSN 0325-0075.

Infantile Pompe's disease is a metabolic myopathy caused by absence of lysosomal acid alpha glucosidase. Affected patients present with myopathy, hypotonia, failure to thrive, and they do not achieve motor milestones. Cardiac hypertrophy leads to cardiac failure and death within the first year of life. The most Patients can be diagnosed early due to the myocardial hypertrophy. Since the development of enzyme replacement therapy with recombinant human alpha glucosidase (rhAGLU) prompt diagnosis is essential. Patients treated with rhAGLU have survived longer and achieved motor milestones unmet by untreated patients. We report a newborn patient in whom the diagnosis of Pompe's disease was established, and whose father was then diagnosed as having late onset disease, an unusual situation to be found in one family. The development of rhAGLU opens a new era in the history of Pompe's disease, and our patient is now receiving treatment.

Keywords : Pompe's disease; Hypertrophic cardiomyopathy; Acid alpha-glucosidase; RhAGLU; type II glucogenosis.

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