Woman With Left Pulsatile Exophthalmos

In the disease, there are skin, peripheral and central nervous system, bone, and soft tissue involvements, and there is an increase in the susceptibility to cancer.1 NF-1 is seen once in 3000 births, showing autosomal dominant inheritance and affecting many systems simultaneously.2 The NF-1 gene is located on chromosome 17 and encodes a type of tumor suppressor protein called neurofibromin. [...]of incomplete or incorrect folding of this protein, benign and rarely malignant nerve tumors are seen from the early stages of life. Because the disease affects many systems at the same time, the diagnostic criteria have been shaped in this direction. The magnetic resonance angiography imaging temporal lobe was herniated anteriorly with the median cerebral artery, causing the orbital contents’ forward shift (Figure 3). [...]we diagnosed the patient as having NF-1 with sphenoid wing dysplasia.Discussion In NF-1 disease, sphenoid wing dysplasia is seen in 5% to 10% of cases.