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Images in Neurology |

Pulsating Enophthalmos in Neurofibromatosis 1

Alexander Lehn, MD; Caroline Airey, MBBS; Richard Boyle, FRACP
JAMA Neurol. 2013;70(5):644. doi:10.1001/jamaneurol.2013.617.
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A 49-year-old man with neurofibromatosis 1 (NF1) presented to the neurology outpatient clinic with headaches and visual disturbance. He had typical clinical features of neurofibromatosis and was noted to have a pulsating enophthalmos. This had first been noted in childhood, when he was hospitalized for the removal of a spinal neurofibroma. Apart from severe, disabling headaches, he has not had any other major complications from NF1. His family history was notable for his mother, his siblings, and both his children all being affected by NF1, although with widely variable phenotypes.

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Figure 1. Multiple skin neurofibromas on a 49-year-old man with neurofibromatosis 1.

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Figure 2. Axial computed tomographic scan showing the absence of the greater wing of the sphenoid bone on the left (asterisk).




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