RESUMEN
A 6 month-old infant presenting with severe mitral regurgitation was found to have hepatosplenomegaly, corneal clouding, and Alder-Reilly granules in the leucocytes. Extremely low levels of beta glucuronidase confirmed the diagnosis of Sly disease (Mucopolysaccharidosis VII). This is the first case of MPS VII reported from India.
Asunto(s)
Femenino , Humanos , Lactante , Insuficiencia de la Válvula Mitral/etiología , Monocitos/patología , Mucopolisacaridosis VII/complicacionesRESUMEN
We report a 32-year-old man with acute myeloid leukemia presenting as obstructive jaundice. Imaging revealed dilated common bile duct with abrupt narrowing at the lower end, distended gall bladder, and dilated intrahepatic biliary radicles. In addition he had a mass lesion in the urinary bladder. On evaluation he was found to have the eosinophilic variant of M4 subtype acute myeloid leukemia. He expired before chemotherapy could be instituted.