Medulloblastoma in a child with Rubenstein-Taybi Syndrome: case report and review of the literature.

Abstract

Although medulloblastoma is usually sporadic, there are a number of uncommon predisposing germline mutation syndromes, including: Gorlin's Syndrome, Turcot's Syndrome and Li-Fraumeni Syndrome. Patients with Rubenstein-Taybi Syndrome secondary to mutation/deletion of the CBP gene on chromosome 16 are predisposed to a variety of developmental anomalies as well as cancer. We report a child with Rubenstein-Taybi syndrome who developed a cerebellar medulloblastoma and review the literature on Rubenstein-Taybi Syndrome and pediatric medulloblastoma. As the product of the CBP gene functions in a variety of signaling pathways, we discuss the molecular implications of findings a medulloblastoma in a child with Rubenstein-Taybi Syndrome.

• Authors: M D Taylor, T G Mainprize, J T Rutka, L Becker, J Bayani, J M Drake
• Journal: Pediatric neurosurgery (Pediatr Neurosurg) Vol. 35 Issue 5 Pg. 235-8 (Nov 2001) ISSN: 1016-2291 [Print] Switzerland
• PMID: 11741116 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2001 S. Karger AG, Basel

Topics

• Abnormalities, Multiple (genetics, pathology, surgery)
• Cell Division (physiology)
• Cerebellar Neoplasms (genetics, pathology, surgery)
• Cerebellum (pathology, surgery)
• Humans
• Infant
• Intellectual Disability (genetics, pathology, surgery)
• Magnetic Resonance Imaging
• Male
• Medulloblastoma (genetics, pathology, surgery)
• Syndrome
• Tomography, X-Ray Computed