This Article Figures Only Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via Google Scholar Google Scholar Articles by Jank, S Articles by Strobl, H Search for Related Content PubMed PubMed Citation Articles by Jank, S Articles by Strobl, H

Intraorbital plexiform neurofibroma in an NF-1-negative patient

¹ Department of Oral and Craniomaxillofacial Surgery, Medical University of Innsbruck, Innsbruck, Austria; ² Department of Oral Pathology, University of Limpopo, MEDUNSA Campus, Pretoria, South Africa; ³ Department of Oral and Maxillofacial Surgery, University of Limpopo, MEDUNSA Campus, Pretoria, South Africa; ⁴ Department of Pathology, Wagner Jauregg Hospital, Linz, Austria; ⁵ Department of Radiology (Ultrasonography), Medical University of Innsbruck, Innsbruck, Austria; ⁶ Department of Radiology (MRI), Medical University of Innsbruck, Innsbruck, Austria; ⁷ Department of Ophthalmology, Medical University of Innsbruck, Innsbruck, Austria; ⁸ Department of Biology, University of Vienna, Vienna, Austria

*Correspondence to: Siegfried Jank, Department of Oral and Craniomaxillofacial Surgery, Medical University of Innsbruck, Maximilianstr. 10, A-6020 Innsbruck, Austria; Email: siegfried.jank{at}gmx.de

Received 13 September 2005; revised 21 February 2006; accepted 13 March 2006

A 52-year-old patient presented with an orbital swelling and exophthalmos that enlarged over a period of about 40 years. The clinical examination showed massive exophthalmos and ptosis of the right eye without diplopia. The radiological investigation (MRI, CT and ultrasound) showed an unclear intraorbital mass with erosion of the orbital floor, infraorbital rim and orbital roof. The lesion was diagnosed histologically as a plexiform neurofibroma. The patient did not present any features of neurofibromatosis type 1 (NF-1) and molecular genetic analysis was unable to uncover a pathogenic sequence alteration in the NF-1 gene. Owing to the absence of clinical and ophthalmologic symptoms and the improbability of complete removal, the patient refused surgical intervention.

Keywords: plexiform neurofibroma; orbit; von Recklinghausen's disease; neurofibromatosis type 1 (NF-1); exophthalmos; magnetic resonance imaging (MRI)