Cranio-orbital anomalies in Von Recklinghausen neurofibromatosis simulating an intraorbital space-occupying lesion.

From the Division of Neurosurgery (Drs. El-Watidy, A. Jamjoom, Z. Jamjoom), King Khalid University Hospital, Riyadh and Department of Neurosurgery (Or. Selen), Northern Area Armed Forces Hospital, Hafer AI-Batin. Address reprint requests and correspondence to Or. A. Jamjoom: Consultant Neurosurgeon, Division of Neurosurgery, King Khalid University Hospital, p.a. Box 2925, Riyadh 11461, Saudi Arabia. Accepted for publication 12 October 1994. A 49-year-old Sri Lankan male, a known case of VRN, presented with a five-month history of diplopia and recurrent episodes of occipital headache associated with blurring of vision. He was investigated elsewhere and referred as a case of an intraorbital tumor. On examination, the patient had multiple cafe-au-lait spots all over the trunk and multiple skin nodules. He had a normal visual acuity bilaterally; however, there was limitation of lateral movement in the right eye. Fundoscopy was normal and there were no Lisch nodules detected in the iris. The visual evoked response showed a PlOO latency of 105 mSec in the right eye and 96 mSec in the left eye. Computed tomography (CT) scan showed an enlarged empty sella (Figure 1). The right sphenoid wing was absent (Figure 2). There was also evidence of brain tissue occupying the posterior aspects of the right orbit and the intracavernous portion of the right carotid artery appeared ectatic (Figure 3). Carotid angiography demonstrated the tortuous and ectatic right internal carotid artery (Figure 4). Neurofibromatosis is a hereditary autosomal dominant disorder which is classified into two main types, referred to as von Recklinghausen neurofibromatosis (VRN) and bilateral acoustic schwannoma.1-3 VRN, which is characterized by a variety of clinical features, is the most commonly encountered neurofibromatosis, affecting one in 3000 persons.4 To increase awareness of clinicians about the various pathology that can be associated with neurofibromatosis, the authors report a unique case of a VRN patient who had cranio-orbital anomalies which simulated a tumor.