[Recklinghausen's neurofibromatosis].

A case of uveal malignant melanoma and contralateral optic nerve glioma is described in a 53-year-old Caucasian male with multiple uveal melanocytic hamartomas and neurofibromatosis. The eye was enucleated, and histologically the melanoma was found to consist of 70% epithelioid cells, with many bizarre, multinucleated forms. CT scan demonstrated a non-enhancing, fusiform enlargement of the contralateral optic nerve with enlargement of the optic canal and intracranial extension. This combination of tumours has not previously been reported in a patient with neurofibromatosis and serves to emphasise the common neuroectodermal origin oftumours in this autosomal dominant condition. Figure I Axial CT scan showingfusiform enlargement of this~~~~~~~~~~~~~~~~~~~~~L _au_:.t___s ma_ t_ d .\ the optic nerve wnth intracranual extension (right) and lobulated uveal mass (left). Optic nerve glioma" and uveal malignant melanoma-"' have both been reported in von Recklinghausen's neurofibromatosis (NF). While the incidence of optic nerve glioma varies from 10 to 70%,2 only 11 cases of uveal malignant melanoma in NF are reported."' In NF uveal malignant melanoma has been reported with acoustic schwannomal and with orbital neuroma.' We describe the previously unreported association of uveal malignant melanoma and contralateral optic nerve glioma in a patient with multiple uveal melanocytic hamartomas and neurofibromatosis. Vancouver General Hospital and University of British Columbia, Vancouver, British Columbia, Canada Department of Pathology CM Antle K F Damji VA White J Rootman Department of Ophthalmology V A White J Rootman Correspondence to: Dr J Rootman, Eye Care Centre, 2550 Willow Street, Vancouver, British Columbia, Canada V5Z 3N9. Accepted for publication 8 March 1990 Case report A 53-year-old Caucasian man with multiple cutaneous neurofibromata, cafe-au-lait spots, and a family history ofNF presented with a fourday history of spots and blurring in the left eye rapidly progressing to total grey-out of vision. The visual acuities were 20/20-3 in the right eye and 20/400 in the left, with a left afferent pupillary defect. The interpalpebral fissures, results of exophthalmometry, and IOP measurements were normal and symmetrical. Neither globe showed displacement. Multiple Lisch nodules and iris naevi were seen, particularly in the left eye, which also had a large inferior sentinal vessel and a cataract. There was a large ciliochoroidal tumour between 4 and 8 o'clock, with 9-10mm of elevation, a total retinal detachment, and anterior iris displacement between 4 and 6 o'clock. Ultrasonography showed a solid, horseshoe shaped mass in the choroid extending from inferotemporal to inferonasal quadrants. Computed tomography showed a normal left orbit and a left globe of normal size with an enhancing lobulated uveal mass in its inferior half extending bilaterally to the ora (Fig 1) without extrascleral extension. On the right the optic nerve had a non enhancing, fusiform enlargement, with expansion of the optic canal and intracranial extension. No cerebellopontine angle or internal auditory canal abnormality was seen. Malignant melanoma was suspected, and it was confirmed on intraoperative fine needle aspiration biopsy, which showed numerous malignant epithelioid melanocytes with large vesicular nuclei and prominent nucleoli. The biopsy was followed by a cryoenucleation. The globe was 24-25 mm in diameter with corneal measurements of 13 x 11 5 mm. Oblique sectioning exposed a black tumour with a 17 mm base and a height of 7 mm. The overlying retina was detached.