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A CASE OF PLEXIFORM WITH OCULAR MANIFESTATION Shivakumar Mallappa1, Sukriti Agrawal 2

1Professor, Department of Ophthalmology, Rajarajeswari Medical College and Hospital, Bangalore. 2Junior Resident (2nd Year), Department of Ophthalmology, Rajarajeswari Medical College and Hospital, Bangalore. HOW TO CITE THIS ARTICLE: Mallappa S, Agrawal S. A case of plexiform neurofibroma with ocular manifestation J. Evid. Based Med. Healthc. 2018; 5(10), 931-933. DOI: 10.18410/jebmh/2018/190

PRESENTATION OF CASE A 48-year-old female came to Rajarajeswari Medical College and Hospital, presented with gradual painless diminution of vision in left eye from 1 year which became painful after self- fall 5 months back. Presence of swellings on scalp & face since birth which increased in size. No history of any other systemic disease. No history of any drug allergy or surgical intervention was stated by the patient. There is no family Figure 3. Showing A) Subluxated Cataractous Lens history of such complain. B) Dilated Congested Episcleral Veins

C) Ectropion Uveae

Figure 1. Multiple Extending from Forehead to Scalp

Figure 4. B-scan showing closed funnel RD

Figure 2. Showing plexiform neurofibroma hanging

down leading mechanical ptosis Figure 5. MRI Showing Optic Nerve

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Financial or Other, Competing Interest: None. (Figure 2). On palpation, the swellings were non-tender, soft Submission 08-02-2018, Peer Review 13-02-2018, and spongy and gave a bag of worm feel. On skin Acceptance 28-02-2018, Published 05-03-2018. examination there was presence of in left axilla but Corresponding Author: no other neurofibromas were noted (apart from forehead Dr. Sukriti Agrawal, Door No. S9/471, and scalp) nor café-au-lait. On ophthalmic examination right Luxmi Villa Pandeypur, eye shows visual acuity of 6/18 and has complete Varanasi – 221002, Uttar Pradesh. improvement with anterior and posterior segment being E-mail: [email protected] DOI: 10.18410/jebmh/2018/190 within normal limit whereas left eye shows visual acuity as no perception of light, complete ptosis (mechanical), dilated congested episcleral veins (Figure 3B), diffused corneal oedema, shallow anterior chamber, loss of iris crypts, ectropion uveae (Figure 3 C), pupil 5 mm in size ,direct and When it is talked about the swelling on the forehead or consensual response absent and subluxated cataractous at scalp, differential diagnosis can be vast, to narrow lens (Figure 3 A) but no Lisch nodules were noted. B-scan down the diagnosis one have to do a thorough (Figure 4) and magnetic resonance imaging (MRI) of the examination of the patient(head to toe). head and orbit was done for the patient (Figure 5), which showed closed funnel retinal detachment (RD) and optic Other cafe au lait patches conditions: - nerve respectively. 1. Isolated cafe au lait patches 2. familial cafe au lait patches Treatment of the Chief Complaint- Patient denied for 3. Legius syndrome. any surgical intervention; only symptomatic treatment was 4. DNA repair deficiency syndrome provided to the patient and patient was on a monthly follow 5. NF1- up and later the patient was referred to neurosurgical 6. Piebaldism department for counselling for surgery. 7. bloom syndrome 8. Fanconi anaemia PATHOLOGICAL DISCUSSION Type 1 (NF1) (Von Recklinghausen's Skin disorders with CNS tumours: - disease) is an autosomal dominant disorder that commonly 1 1. complex presents with ophthalmic lesions. A neurofibroma is a 2. McCune-Albright syndrome benign nerve sheath tumour in the peripheral nervous 3. ataxia-telangiectasia system. Neurofibromatosis type 1 (NF-1) is a rare autosomal 4. Gorlin syndrome (nevoid basal cell carcinoma dominant genetic condition (1/3000 subjects), caused by syndrome). mutations of the NF1 gene, which is located at chromosome 5. Sturge-Weber syndrome (encephalo-trigeminal 17q11.2, characterized by multiple skin alterations such as ) café-au-lait macules and axillary freckling and by tumoural 2 growth along nerves, called neurofibromas. Neurofibromas Maculae conditions misdiagnosed with cafe au lait patches- arise from non-myelinating-type Schwann cells that exhibit 1. leopard syndrome biallelic inactivation of the NF1 gene that codes for the 3 2. neurocutaneous melanosis protein neurofibromin. 3. Peutz-Jeghers syndrome In general if we talk about tumour’s is characterized it can be presented as tortuous proliferation of all components Locally excessive growing syndromes: - of peripheral nerves that include axons, Schwann cells, 1. Klippel-Trenauney-Weber syndrome fibroblasts and perineural cells. If only a plexiform 2. neurofibroma is seen grossly it circumscribed with distinct proliferative nodules. In this case patient was not willing for Tumour conditions misdiagnosed with neurofibromas: - any biopsy, so pathological finding can be illustrated. 1. lipomatosis 2. Bannayan-Riley-Ruvalcaba syndrome DISCUSSION OF MANAGEMENT 3. fibromatosis In NF1 the type of neurofibromas seen can be diffuse 4. endocrine multiple neoplasias Type 2b (men 2b) neurofibromas, cutaneous or dermal neurofibromas, intramuscular neurofibromas, plexiform neurofibromas. CLINICAL DIAGNOSIS (Clinical and Radiographic Plexiform neurofibromas differ from cutaneous Findings): - neurofibromas in that they have more connective tissue On physical examination there were multiple nodular (extracellular matrix) that separates the nerve fibres. swellings present all over the left scalp and forehead (Figure Plexiform neurofibromas have different subtypes. No specific 1). The swelling is hyper-pigmented, and size varies from 7 guidelines are stated for the Patients with plexiform cm to 0.5 cm. The largest swelling is conical in shape hangs neurofibroma, mostly the treatment of taken into down the forehead leading to complete ptosis of left eye consideration is controlling symptoms. The only therapy

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Jebmh.com Case Report available would be the surgical excision probably but there  A first-degree relative with NF-1 according to the is no medication that is available can prevent or treat above criteria. plexiform neurofibromas. However, if we talk about the surgical excision; most of the case showed poor prognosis Patient was diagnosed with plexiform neurofibroma as it leads to the high rate of tumour re-growth. Tons of associated with NF1 with traumatic subluxated cataractous Clinical trials examining conventional chemotherapeutic lens & total RD in left eye. agents, antifibrotic agents, and other biologic therapies have had mixed results. Pirfenidone, an antifibrotic agent, has REFERENCES been shown to inhibit survival of human neurofibroma [1] Ruggieri M, Pavone P, Polizzi A, et al. xenografts in mice, but human trials have been less Ophthalmological manifestations in segmental promising.4 neurofibromatosis type 1. Br J Ophthalmol 2004;88(11):1429-1433. FINAL DIAGNOSIS [2] Evans DG, Howard E, Giblin C, et al. Birth incidence National Institutes of Health (NIH) stated diagnostic criteria and prevalence of tumor-prone syndromes: estimates of patients with NF1. The diagnosis of NF1 is established from a UK family genetic register service. Am J Med when two or more of these seven features listed below are Genet A 2010;152A(2):327-332. present.5 [3] Muir D, Neubauer D, Lim IT, et al. Tumorigenic  Six or more café au lait macules larger than 5 mm in properties of neurofibromin-deficient neurofibroma greatest diameter in prepubertal individuals and those Schwann cells. American Journal of Pathology larger than 15 mm in greatest diameter in post 2003;158(2):501-513. pubertal individuals [4] Babovic-Vuksanovic D, Petrovic L, Knudsen BE, et al.  Two or more neurofibromas of any type or 1 plexiform Survival of human neurofibroma in immunodeficient neurofibroma mice and initial results of therapy with pirfenidone. J  Freckling in the axillary or inguinal regions Biomed Biotechnol 2004;2:79-85.  Optic glioma [5] Neurofibromatosis. Conference statement. National  Two or more Lisch nodules (iris ) Institutes of Health Consensus Development  A distinctive osseous lesion, such as sphenoid Conference. Arch Neurol 1988;45(5):575-578. dysplasia or thinning of the long bone cortex, with or without pseudoarthrosis

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