Abstract

ARUJ, Patricia K; RAUSCH, Silvia  and  DE VITO, Eduardo L. Carcinoma neuroendocrino de timo con enfermedad de pompe del adulto. Medicina (B. Aires) [online]. 2015, vol.75, n.5, pp.315-318. ISSN 0025-7680.

Pompe disease (glycogenosis type II) is an inherited autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase. Thymic neuroendocrine tumors, are primary thymic neoplasms with neuroendocrine differentiation that generally present as a mass within the anterior mediastinum. Both diseases are considered rare. To our knowledge the co-existence of Pompe disease and thymic neuroendocrine tumor in the same patient has not been previously reported. We could not find biological plausibility between both diseases. Further studies are needed to confirm the finding and to further increase our understanding of this association. Clinical data from epidemiological studies, case reports, case series and small formal open or controlled clinical trials may define both clinical plausibility and causality between the two conditions.

Keywords : Pompe disease; Type II glycogenosis; Thymic neuroendocrine tumors.

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