Neurofibromatosis type I: a case report

Abstract

Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited disease that is characterized by the presence of multiple neurofibromas, café-au-lait spots and iris hamartomas. It is well established that the incidence of tumors in patients with NF1 is high compared with the normal population and that the majority of the tumors are non-epithelial neoplasms, including neurofibromas, malignant peripheral nerve sheath tumors, gliomas and leukemia. NF1 is underdiagnozed condition in Easter European countries as well in Lithuania. We report a family with type 1 neurofibromatosis cases. The diagnosis NF-1 was made according to the presence of diagnostic criteria of the National Institute of Health Consensus Development Conference.