Abstract

Neurofibromatoses are autosomal dominant disorders that cause tumors to grow on nerves and result in other abnormalities such as skin changes and bone deformities. It was believed that there were 2 types of neurofibromatosis (type 1 and type 2), but it is recognized that they are clinically and genetically distinct diseases and should be considered as separate entities: neurofibromatosis type 1 (NF-1) and neurofibromatosis type 2 (NF-2). We present a case of 1.5-year-old girl with NF1. The child was admitted for a simple respiratory infection and child was worked up for NF as child had clinical findings suggestive of Neurofibromatosis. Child’s father and paternal uncle were suffering from blindness due to retinitis pigmentosa.

Keywords: Neurofibromatosis, retinitis pigmentosa, NF1