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Journal of Pediatric Neuroradiology 2014; 03(03): 139-142
DOI: 10.3233/PNR-14179
DOI: 10.3233/PNR-14179
Case Report
Childhood orbitotemporal neurofibromatosis with congenital glaucoma – A clinical and neuroradiological report
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Further Information
Publication History
02 February 2013
04 February 2014
Publication Date:
29 July 2015 (online)
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.