Abstract

CERON-RODRIGUEZ, Magdalena et al. First case of a patient with late-onset Pompe disease: Cardiomyopathy remission with enzyme replacement therapy. Bol. Med. Hosp. Infant. Mex. [online]. 2014, vol.71, n.1, pp.42-46. ISSN 1665-1146.

Background: Pompe disease (PD) is an autosomal recessive disease caused by a deficiency in the lysosomal human enzyme α-alglucosidase. Among children (early onset), PD causes cardiomyopathy, whereas late-onset disease seems unrelated to a high rate of cardiomyopathy. Patients respond less to enzyme replacement therapy (ERT) with α-alglucosidase. Case report: This is the case of an 8-year-old female patient with symptom onset at 3 years of age (late onset) with recurrent respiratory infections and progressive muscular weakness. Diagnosis for Pompe disease (PD) was established due to evidence from muscle biopsy. At baseline, a right lobectomy was performed for bronchiectasis and necrosis. The patient developed pneumonia and received mechanical respiratory support (CPAP) for 4 weeks with absolute dependence on oxygen and BPAP. ERT with α-alglucosidase was given. Conclusions: This patient's positive output and remarkable effects on cardiovascular and respiratory function suggest that ERT may reduce cardiomyopathy among late-onset PD patients.

Keywords : Pompe disease; Enzyme replacement therapy α-alglucosidase; Cardiomyopathy.

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