Medulloblastoma in patient with Rubinstein-Taybi syndrome

✍ Scribed by Skousen, Gale J.; Wardinsky, Terrance; Chenaille, Peter

• Publisher: John Wiley and Sons
• Year: 1996
• Tongue: English
• Weight: 80 KB
• Volume: 66
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/(sici)1096-8628(19961218)66:3<367::aid-ajmg27>3.0.co;2-j

✦ Synopsis

The following is a brief description of a patient with Rubinstein-Taybi syndrome (RTS) and medulloblastoma. We report the case in recognition of the apparent excess number of brain tumors in patients with RTS [Miller and Rubinstein, 19951 and because of the delay in diagnosis that occurred in this patient.

The patient is a 9-year-old boy diagnosed at age 2 years with RTS on the basis of downward slanted palpe-bra1 fissures, micrognathia, broad toes and thumbs, mental retardation, and a stiff, unsteady gait. He was diagnosed with a posterior fossa medulloblastoma in March of 1990. Before the diagnosis, multiple visits were made t o his healthcare providers t o evaluate recurrent complaints of neck pain, vomiting, and constipation. Those visits focused on evaluations of the neck and gastrointestinal tract. At the time of diagnosis, the tumor had metastasize? to the suprasellar region and the left subfrontal area.