Abstract

Background: Neurofibromatosis type 1 is an autosomal dominant hereditary disease. Lesions in this disease are localized at least in 2 organ systems - most frequently skin and central nervous system are involved.
Case Report: We present a case report of a 16-year-old female patient, in whom NF-1 disease was diagnosed on the basis of neurological and ophthalmological symptoms. Appearance of the characteristic ophthalmological symptoms, including Lisch nodules of the iris and lesions in the optic nerves associated with the presence of the central nervous system glioma, led to the proper diagnosis.
Conclusions: Both proper diagnosis and treatment of the patient with neurofibromatosis type 1 require cooperation of different specialties.

Keywords: NF-1 disease, neurofibromatosis type 1, Lisch nodules, Glioma, support and self-help groups for the patient with NF-1