A rare case of neurofibromatosis with proptosis-orbital neurofibroma
Journal Title: IP International Journal of Ocular Oncology and Oculoplasty - Year 2018, Vol 4, Issue 3
Abstract
Neurofibromatosis an oculoneurocutaneous syndrome is characterized by multisystem involvement A 65 years old male patient came to the dept of ophthalmology S V R R Govt General Hospital Tirupati with the complaints of protrusion of his left eye noticed by him 20 days back with a history of drooping of left upper eyelid On physical examination the patient was short statured Ht 148cm with scoliosis there were multiple neurofibromas on the skin all over the body and face freckles in the axillary region and cafaulait spots over his trunk On ocular examination the patient had eccentric proptosis of left eye where the eyeball was shifted downwards Hypotropia of 450 and forwards 24mm on exophthalmometry with severe ptosis of left upper eyelid with restriction of extraocular movements No palpable mass was noted Finger insinuation between the orbital margin and the globe was possible Right eye was normal Slitlamp examination showed multiple Lisch nodules on the surface of iris in both eyes Fundoscopy showed inferior coloboma choroid of left eye with normal fundus picture in Right eye Binocular diplopia was noted on elevating the upper eyelid of left eye Forced duction test was positive CT scan showed proptosis of left eye Ultrasound Bscan of left eye showed a well defined mass lesion of 15x2cm size slightly hyperechoic with minimal vascularity situated away from the globe along the lateral aspect of the orbit suggestive of Orbital neurofibroma The rare entity in the present case is the Localized form of orbital neurofibroma Diagnosis in the present case is clinical Linkage analysis using polymorphic DNA markers can be performed allowing prenatal diagnosis or presymptomatic diagnosisKeywordOculoneurocutaneous syndrome Orbital neurofibroma Lisch nodules
Authors and Affiliations
Divya D.
Keywords
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- EP ID EP513419
- DOI 10.18231/2581-5016.2018.0035
- Views 119
- Downloads 0
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