Neurofibromatosis type 1 presenting as buphthalmos at birth and developing into dural herniation over a period of seven years

Abstract

Neurofibromatosis type 1 (NF1) is a genetic disorder that is characterized by appearance of benign tumors of the nerves, soft tissues, and the skin. We discuss a case of a newborn who presented with buphthalmos in the left eye and who, over the years, developed all the features of NF1. There was progressive proptosis, plexiform-neurofibroma of the eyelid, café-au-lait spots, and pigmentation along the trigeminal nerve. There was absent left sphenoid bone–associated dural herniation into orbital spaces, as detected on MRI. Keeping neurofibromatosis as an etiological differential in patients presenting with buphthalmos can help treating physicians understand the spectrum of the approaching disease and counsel the parents accordingly.