A Case of Medulloblastoma Associated with Rubinstein-Taybi Syndrome

Abstract

A case of medulloblastoma associated with Rubinstein-Taybi syndrome is reported, as this is the first reported case of medulloblastoma associated with this syndrome, to our knowlegde. The patient was an 8 1/2-year-old girl who had a typical facial appearance, broadening of the thumbs and great toes, and mental retardation. She had been exhibiting irritability for one month. A brain CT scan showed a homogeneously enhanced round mass in the midline of the posterior fossa with marked hydrocephalus. Gross total removal of the mass was performed, and the pathology showed findings of medulloblastoma.