Neurofibromatosis – diagnostic challenges

Abstract

Neurofibromatosis is a rare disease and in its classical presentation is not difficult to diagnose, but when the clinical finding is not typical it becomes a diagnostic problem. Aim: to present a clinical case of neurofibromatosis that was a diagnostic problem because of its atypical manifestation. Clinical case description: one-year follow-up and treatment of a patient with neurofibromatosis at the UMHB Pleven Eye Clinic. The patient was treated initially for keratitis according to the clinical presentation and patient’s complaints. During the second visit complaints of double images and exophthalmos were reported. CAT showed tumor formation in the orbit. Trifold biopsy was made due to inconsistency of the clinical picture with the finding. Steroid therapy was applied at the first visit showing good response, and of course clouded the diagnosis. Partial resection of tumor masses was made during the 2nd visit and 2nd biopsy. Results showed some response to anti-inflammatory therapy and yet unclear diagnosis. A larger biopsy contributed to the reduction of double images without significant reduction in exophthalmos. The diagnosis was made after the 3rd skin biopsy. Conclusion: a rare disease requiring a multidisciplinary approach. Further monitoring of the progression of orbital fibromas and/or subsequent orbital surgery and/or radiation or chemotherapy is required.