Childhood orbitotemporal neurofibromatosis with congenital glaucoma – A clinical and neuroradiological report

Abstract

In infants with unilateral congenital glaucoma, orbitotemporal neurofibromatosis should be included in the differential diagnosis. We present an unusual case of neurofibromatosis type-1 with unilateral congenital glaucoma, buphthalmos and spheno-orbital dysplasia. The neuroimaging features are discussed. Presence of all the syndromic features at 6 months of life have rarely been described in the literature.

Keywords

Orbitotemporal - neurofibromatosis - buphthalmos - neuroimaging