Assuntos
Doença de Leigh , Humanos , Mutação/genética , Fenótipo , Doença de Leigh/genética , DNA Mitocondrial/genéticaRESUMO
Cystic partially differentiated nephroblastoma is a rare renal tumor of childhood. It is part of a spectrum of multicystic renal tumors that also includes cystic nephroma and cystic Wilms' tumor. We present a case of cystic partially differentiated nephroblastoma, highlighting the clinical and imaging diagnostic challenge. Although the histological diagnostic criteria for all these 3 entities are well established, they are clinically and radiologically indistinguishable. Cystic partially differentiated nephroblastoma is often observed in male children under 2 years old. Typical clinical presentations include abdominal masses, abdominal pain and/or hematuria. Patients should be treated according to tumor histology and stage.
RESUMO
The present report describes the case of a child that after blunt abdominal trauma presented with portal thrombosis followed by progressive splenomegaly and jaundice. Ultrasonography and percutaneous cholangiography revealed biliary dilatation secondary to choledochal stenosis caused by dilated peribiliary veins, characterizing a case of portal biliopathy. The present case report is aimed at presenting an uncommon cause of this condition.
Relata-se o caso de uma criança que após trauma abdominal fechado apresentou trombose portal, seguida por esplenomegalia progressiva e icterícia. Os achados da ultrassonografia e da colangiografia percutânea mostraram dilatação de vias biliares secundária à constrição do colédoco por veias pericoledocianas dilatadas, configurando caso de colangiopatia portal. O objetivo deste relato é a apresentação de causa incomum desta condição.
