Neurofibromatosis Type 1 Presenting with Ophthalmic Features: A Case Series

Abstract

Neurofibromatosis type 1 (NF-1) is an autosomal dominant disorder involving multiple systems and affects approximately 1 out of 3000 persons. Ocular manifestations are lisch nodules, plexiform neurofibroma, optic pathway gliomas. The proper diagnosis of NF-1 is a crucial task for a clinician due to the various clinical manifestations including vision and life threatening malignancies in few patients, which may arise in the different phases of life. The authors report three cases of NF-1, presenting with ophthalmic symptoms in teenager boys. On further ophthalmic and paediatric evaluation the diagnosis of NF-1 was confirmed on the basis of clinical criteria. This series also describe the abnormal facial features like telecanthus and broad nose which has been reported rarely. Case 1 was kept under regular follow-up and Case 2 and Case 3 were planned for the debulking surgery for plexiform neurofibroma of upper eye lid. A multidisciplinary approach is required to diagnose and treat such patients keeping in mind the myriad of clinical manifestations and life-long follow-up is required.

Keywords: Lisch nodule; Plexiform neurofibroma; Telecanthus.

[Table/Fig-1]:

Clinical and imaging photographs of a child with NF-1 (Case 1) (a-f). a.) Clinical photograph at presentation showing telecanthus and broad nose; b.) Ocular image showing multiple hypopigmented elevated lesions suggestive of Lisch nodules; c.) Abdominal photograph depicting multiple hyper pigmented macules suggestive of cafe-au-lait spots; d.) Photograph of inner side of thigh showing hairy, elevated rubbery and pigmented lesion suggestive of plexiform neurofibroma; e.) Hyperpigmented lesion over the outer side of thigh suggestive of cafe-au-lai spot; f.) Magnetic resonance imaging (MRI) brain on T2W imaging showing hyper intense lesion in basal ganglia region suggestive of unidentified bright objects.

[Table/Fig-2]:

Clinical photographs of a child with NF-1 (Case 2) (a-f). a.) Clinical picture showing right eye S-shaped plexiform neurofibroma involving upper eye lid covering the whole eyeball; b.) On retraction of mass telecanthus and normal eyeball is visible; c.) Lateral image showing left plexiform neurofibroma overlying the external ear; d.) Ocular photograph showing fine iris Lisch nodules (arrowheads); e.) Abdominal photograph showing multiple hyperpigmented macules suggestive of cafe-au-lait spots; f.) Picture showing nodule over the lower leg (arrowhead) suggestive of neurofibroma.

[Table/Fig-3]:

Clinical pictures of a patient with NF-1 (Case 3) (a-e). a.) Clincal photograph showing right upper eye lid boggy swelling suggestive of plexiform neurofibroma causing S-shaped mechanical ptosis (black arrowhead); b.) Slit lamp photograph showing multiple iris Lisch nodules (blue arrow) and corectopia; c.) Multiple small subcutaneous nodules; d.) Subcutaneous nodule (upper arrow) and multiple cafe-au-lait spots (lower arrow) over the back; e.) A large cafe-au-lait (blue arrow) spot over the left lateral side of trunk with multiple subcutaneous nodules.