Pompe disease in pediatrics: the multiple faces of a not so rare lysosomal storage disorder
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Abstract
Introduction: Pompe disease or glycogen storage disease type II is characterized by the deficiency of the enzyme acid alpha-glucosidase (GAA), resulting in an accumulation of glycogen in tissues, mainly cardiac, skeletal and smooth muscle. Case report: Case 1 - Male patient, 1 month old, born to a non-consanguineous couple, referred for investigation of cardiomyopathy and hepatomegaly, with an increase in transaminases, in addition to a slight increase in of CPK and CK-MB. In the first evaluations, the patient showed no signs of hypotonia. The child showed progressive signs of hypotonia and cardiac dysfunction. Thus, enzymatic assays were carried out for the alpha-glucosidase deficiency, compatible with Pompe disease. Enzyme replacement therapy (ERT) was started in the fourth month of life, but the child evolved with cardiogenic shock and septic, and died. Case 2 - Female patient, 13 years old, born to non-consanguineous parents, presented with progressive scoliosis, signs of muscle weakness (predominantly in the neck) and respiratory symptoms associated. After extensive investigation, late-onset Pompe disease is diagnosed, after enzymatic testing and GAA molecular analysis. She started ERT at 16 years, resulting in relatively stability of her clinical picture. Conclusion: Pompe disease comprises a wide spectrum of manifestations, making clinical detection difficult, since it can be misdiagnosed with other more common diseases. Since it is currently a treatable disorder, early diagnosis is critical for better prognosis.
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