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AJNR - American Journal of Neuroradiology

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American Journal of Neuroradiology 25:36-38, January 2004
© 2004 American Society of Neuroradiology

Case Report
PEDIATRICS

Rapid Development of Optic Glioma in a Patient with Hybrid Phakomatosis: Neurofibromatosis Type 1 and Tuberous Sclerosis

Sami H. Erbay^a, Stephen A. Oljeski^a and Rafeeque Bhadelia^a

^a From the Department of Radiology, New England Medical Center and Tufts University School of Medicine, Boston, MA

Address correspondence to Sami H. Erbay, MD, Department of Radiology, P.O. Box 299, New England Medical Center and Tufts University School of Medicine, 750 Washington Street, Boston, MA 02111

Summary: Increased propensity for tumor formation in neurofibromatosis and tuberous sclerosis exists because of defective tumor-suppressor genes. Although different tumor-suppressor genes may be involved in neurofibromatosis and tuberous sclerosis, at the cellular level these genes share rather common enzymatic pathways. We believe these genetic malfunctions have resulted in a cumulative or additive effect for rapid growth of optic glioma in the following unusual case that has hybrid phakomatosis.

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