Answer
Neurofibromatosis
The most serious complication of neurofibromatosis type 1 (NF-1) is optic nerve and/or chiasm glioma (in 15% of patients).
An MRI of the orbit and brain is needed to screen for the tumor.
Sturge-Weber syndrome
In Sturge-Weber syndrome, calcium deposits located predominantly in the occipital lobe of the brain parenchyma can be detected by a CT scan. These deposits follow the cerebral convolutions and give the appearance of a railroad track.
Angiomatous malformations, decreased cerebral volume, and increased choroidal plexus volume are the other findings of Sturge-Weber syndrome. An MRI can delineate these findings better than a CT scan.
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Media Gallery
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Axenfeld-Rieger syndrome with iris atrophy, corectopia, and pseudopolycoria.
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Female patient with plexiform neurofibroma (NF-1). Upper right eyelid involvement, associated with ipsilateral buphthalmos. In Image A (left), patient is aged 8 months; in Image B (right), patient is aged 8 years.
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Female infant with Sturge-Weber syndrome. Facial port-wine nevus involves the left eyelid, associated with ipsilateral buphthalmos.
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