Abstract

Neurofibromatosis type 1 is the most common phacomatosis which is associated with multiple systemic involvement. Secondary congenital glaucoma may be one of the signs of NF1 although very rare. We report a case of 20 days old neonate who presented with buphthalmos who later developed soft tissue swelling involving the temple and was initially radiologically miming vascular malformation with later development of plexiform neurofibroma at the age of 4 month. This case is unique in that the baby was initially misdiagnosed as primary congenital glaucoma and there was a delay in the diagnosis of NF1 especially that radiological imaging supports the diagnosis of vascular malformation.