RESUMO
Morquio syndrome is a rare lysosomal storage disease that affects multiple organ systems. However, it is rarely associated with malignancy. We present the case of a 30-year old man with Morquio syndrome associated with gastric adenocarcinoma. This case also demonstrates two other findings that have not been previously described in patients with Morquio syndrome - malrotation of brainstem and cerebellum, without clinical neurologic deficit, and persistence of fetal lobulation in the kidneys.
RESUMO
Morquio syndrome is a rare lysosomal storage disease that affects multiple organ systems. However, it is rarely associated with malignancy. We present the case of a 30-year old man with Morquio syndrome associated with gastric adenocarcinoma. This case also demonstrates two other findings that have not been previously described in patients with Morquio syndrome - malrotation of brainstem and cerebellum, without clinical neurologic deficit, and persistence of fetal lobulation in the kidneys.
Assuntos
Humanos , Masculino , Adulto , Doenças por Armazenamento dos Lisossomos/patologia , Mucopolissacaridose IV/patologia , Autopsia , Tronco Encefálico/anormalidades , Cerebelo/anormalidades , Evolução Fatal , Rim Fundido/patologia , Segunda Neoplasia Primária/complicações , Neoplasias Gástricas/patologiaRESUMO
Malignant granular cell tumor is a rare neoplasm reported to occur at various sites in the body. Histogenesis of these tumors is still vaguely understood; however, their metastatic potential and adverse prognosis is well-described in the literature. The histologic criteria of malignancy proposed by Fanburg-Smith et al are still debatable amongst pathologists, with metastasis being the sole criterion of malignancy with unanimous agreement. To our knowledge, no specific karyotype characterizes these tumors. Hence, the importance of detecting characteristic cytogenetic alterations in these tumors which might serve, in the future, as a possible aid in diagnosis or therapy. We report a new case of malignant granular cell tumor of the thigh with metastases to abdominal wall and both lungs causing severe dyspnea. Cytogenetic analysis demonstrated that 60% of cultured tumor cells display the following karyotype 46,XX,+X,dic(5;15).
