Abstract
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.
MeSH terms
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Female
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Genes, Tumor Suppressor
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Genetic Predisposition to Disease / genetics
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Humans
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Infant, Newborn
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Magnetic Resonance Imaging
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Neoplasms, Multiple Primary / diagnostic imaging
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Neoplasms, Multiple Primary / genetics
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Neoplasms, Multiple Primary / pathology
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Neurocutaneous Syndromes / diagnostic imaging
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Neurocutaneous Syndromes / genetics
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Neurocutaneous Syndromes / pathology*
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Neurofibromatosis 1 / diagnostic imaging
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Neurofibromatosis 1 / genetics
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Neurofibromatosis 1 / pathology
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Optic Nerve / abnormalities
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Optic Nerve / diagnostic imaging
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Optic Nerve Glioma / diagnostic imaging
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Optic Nerve Glioma / genetics
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Optic Nerve Glioma / pathology*
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Orbit / abnormalities
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Orbit / diagnostic imaging
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Orbital Neoplasms / diagnostic imaging
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Orbital Neoplasms / genetics
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Orbital Neoplasms / pathology*
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Radiographic Image Enhancement
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Tuberous Sclerosis / diagnostic imaging
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Tuberous Sclerosis / genetics
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Tuberous Sclerosis / pathology