[Thymic neuroendocrine carcinoma with Pompe's disease of the adult].
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.
Instituto de Investigaciones Médicas Alfredo Lanari, Universidad de Buenos Aires, Argentina. E-mail: aruj.patricia@lanari.fmed.uba.ar.
Patricia K
PK
Aruj
Silvia
S
Rausch
Eduardo L
EL
De Vito
D000328:Adult; D018278:Carcinoma, Neuroendocrine / Q000150:complications* / Q000175:diagnosis; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D008297:Male; D008875:Middle Aged; D035583:Rare Diseases / Q000175:diagnosis; D013953:Thymus Neoplasms / Q000150:complications* / Q000175:diagnosis; D015898:Tomography Scanners, X-Ray Computed
Pompe disease; thymic neuroendocrine tumors; type II glycogenosis