University Journal of Surgery and Surgical Specialities

ISSN 2455-2860 2017, Vol. 3(4)

STAGE 4 IN A 13 YEAR OLD GIRL A CASE REPORT

SHILPA ELIZABETH KURVILLA

Department of Ophthalmology, CHRISTIAN MEDICAL COLLEGE

Abstract : same duration. She had noticed a white reflex in the left eye 10 Introduction-Retinoblastoma is rare after 3 years of age, the months prior to the present complaints, for which she had been mean age of diagnosis being18 months in bilateral seen and investigated elsewhere. She gave history of decreased retinoblastoma and 24 months in unilateral cases. We report vision in the left eye over the past 10 months, with a complete a 13 year old girl with unilateral retinoblastoma and loss of vision in the left eye for the past 2 months. A general intracranial extension. Case History- The girl presented with systemic examination revealed enlarged left pre-auricular and loss of vision in the left eye and prominence of the left eye sub-mandibular lymph nodes which were non-tender and mobile. along with pain for 2 months duration. Clinical examination of There were no peripheral markers of . Ocular the left eye revealed no perception of light, proptosis, examination of the right eye revealed a vision of 6/6 (Snellen shallow anterior chamber, neovascular glaucoma and total Visual Acuity Chart) with normal anterior and posterior segments. cataract. A review of imaging done 10 months prior to The left eye had no perception of light. The left eye showed axial presentation showed a heterogenous intraocular mass proptosis. There was circum-ciliary congestion. A diffuse partially filling the globe with no involvement. microcystic epithelial edema was present throughout the cornea. The anterior chamber was shallow; with peripheral irido-corneal Amore recent Imaging showed the tumour completely filling 0 the globe with optic nerve involvementupto the chiasm. The touch all around for 360 . The iris showed large, irregularly differential diagnoses included optic nerve and branching new vessels coursing over the entire surface of the withintraocular involvement, retinoblastoma with iris. The pupil was dilated and fixed with a total afferent pupillary intracranial extension and an intraocular inflammation with defect. There was a total cataract, obscuring view to the fundus. extension. The eye was enucleated and histopathological The intraocular pressure was 12mmHg in the right eye and examination showed malignant round cell tumour consistent 28mmHg in the left (Goldmann Applanation Tonometry). with retinoblastoma. Conclusion-The differential diagnoses IMAGING and relevant literature review of an intraocular tumour with intracranial involvement is discussed. Although rare, retinoblastoma should be considered as a differential diagnosis for an intraocular tumour with wide spread involvement in a teenager.

Keyword :Retinoblastoma, teenager INTRODUCTION Retinoblastoma is a rare disease, the incidence being approximately 1:15,000 to 1:20,000 live births (1). It is rare to find patients with retinoblastoma after the period of early childhood, as 90% are diagnosed before the age of 5 years (2). We report a case of advanced Figure 1: CT scan showing calcific spots within the left retinoblastoma with intracranial extension in a teenage girl, intraocular tumor who had an atypical presentation of the disease. CLINICAL FEATURES A 13 year old girl presented to us with history of headache of 2 months duration. She also complained of pain and redness of her left eye for the

An Initiative of The Tamil Nadu Dr. M.G.R. Medical University University Journal of Surgery and Surgical Specialities

Histopathological examination revealed a large necrotic tumour in the posterior segment of the enucleated globe pushing the lens forward. There was involvement of the choroid and the optic nerve with tumour (Figure 3). The tumour was composed of closely packed small cells with round, hyperchromatic, mitotically and apoptotically active nuclei with scanty cytoplasm (Figure 4). Immuno histochemistry revealed that these cells were immuno positive for -specific enolase and synaptophysin, but negative for other round-cell tumour markers (GFAP, CD3 and CD7a). Hence, a histopathological diagnosis of retinoblastoma was made. FURTHER COURSE On follow-up, the patient was pain-free after enucleation. Cosmetic rehabilitation Figure 2: MRI showing tumor filling the globe & involving the was done by the fitting of an ocular prosthesis. All her entire optic nerve family members were screened by dilated fundus An ocular ultrasonography revealed the vitreous cavity of the left eye examination and found to be negative for to be filled with dot-like echoes, suggestive of calcification, as there retinoblastoma. The patient was evaluated by Paediatric was presence of shadowing beyond the hyper-echoic spots. A review Oncology and started on palliative chemotherapy (VEC of imaging done 10 months prior to presentation showed an intraocular - vincristine, etoposide and carboplatin). mass in the posterior segment of the left globe. This mass had calcific DISCUSSION: spots, which was seen in the plain CT scan (Figure1). The mass The various causes of proptosis in a teenage patient enhanced on contrast. The optic nerve was normal. An MRI done at include inflammation, developmental cysts, haematoma the same time showed that the mass was hypointense on T2weighted and tumours. Among the various possibilities, the images and partially filling the globe. A more recent imaging (MRI) differential diagnoses considered for our patient were showed the same mass to be filling the globe. The optic nerve was optic nerve glioma or meningioma with ocular involved with the tumour, which extended upto the optic chiasm involvement, retinoblastoma with intracranial extension (Figure 2). HISTOPATHOLOGY On considering the history, or an inflammatory orbital mass with intraocular and examination and the 2 sets of imaging, a clinical diagnosis of intracranial extension. Optic nerve glioma was Retinoblastoma Group E was made. A decision was taken to considered initially as a likely diagnosis for our patient enucleate the left eye as it was a painful blind eye and there was a because this tumour is common among young girls. need for histopathological diagnosis before initiating further treatment. Moreover, the spread of the tumour along the optic nerve upto the chiasm is characteristically seen in optic . Typically, patients with optic nerve glioma pre- sent with a gradual, painless visual loss. Optic gliomas have been reported to have intraocular involvement (3) (4) (5). However, in none of these cases has the intra-ocular part of the tumour filled the entire posterior segment of the globe. Furthermore, in our patient, the imaging showed a mass which was isointense on T1 and hypointense on T2 weighted images. Optic glio- mas are typically hypointense on T1 and hyperintense in T2 images. The presence of calcific spots in the mass pointed against a glioma, as calcification is rare in optic Figure 3: HPE showing necrotic tumor filling the globe & gliomas (6). Optic nerve have also been involving the choroid reported to have intraocular involvement, hence was considered a possibility in our patient (7) (8) (9) (10). Meningiomas can present with gradually increasing proptosis. 30% of them are associated with the presence of optociliary shunt vessels. CT scan shows the presence of thickening of the optic nerve and the presence of calcification. They are hyperintense in T1 weighted Images and hypointense in T2 weighted images, which is in fact similar to the images of our case. However, these tumours are commonly seen in middle-aged women, so was a less likely diagnosis in our teenage patient. Retinoblastoma is a rare entity. However, it is the most common intraocular malignancy in early childhood (11) (12). The average age of diagnosis of retinoblastoma is 24 months in Figure 4: HPE showing closely packed small cells with round, unilateral cases and 13 months in bilateral cases (1). It hyperchromatic, mitotically and apoptotically active nuclei with is rare to find retinoblastoma presenting in an older scanty cytoplasm child, especially if older than 5 years of age. There have been case reports of retinoblastoma presenting in older children as well as adults (13) (14) (15), the first of these being a report by Verhoeff in 1929 of retinoblastoma in a 48 year old man (16). A case series of retinoblastoma in older children was published, highlighting the atypical presentations seen in these cases

An Initiative of The Tamil Nadu Dr. M.G.R. Medical University University Journal of Surgery and Surgical Specialities

. However, none of the patients were described to have extensive retinoblastoma as seen in a teenager.

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13 Shields, JA. Retinoblastoma in an eighteen year old male. J Pediatr Ophthalmol. 13, 1976, 274-7.

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16 Verhoeff, FH. Retinoblastoma: Report of a case in a man aged forty-eight. Arch Ophthalmol. 2, 1929, 643-50.

An Initiative of The Tamil Nadu Dr. M.G.R. Medical University University Journal of Surgery and Surgical Specialities