Ganglioneuroma- A rare mimicker of Retinoblastoma Dr. Sandhya A Dr.Natasha Radhakrishnan Dr. Indu R Nair Dr.Gopal.S.Pillai FP956
Four year old female patient was referred as a case of retinoblastoma At presentation she had a BCVA of 6/6 OD and 6/12 OS. Multilobulated mass 4-5DD extending superiorly from optic nerve head
B SCAN Solid mass with calcification
A diagnosis of retinoblastoma was made based on clinical findings and B Scan exam. The patient was evaluated by an oncologist which revealed no systemic abnormalities. CSF examination and bone marrow aspirate was normal. USG abdomen was normal. Bone marrow biopsy was inconclusive. Diagnosis of retinoblastoma was made and the patient was started on systemic chemotherapy.
Non regressed tumor post 2 cycles chemotherapy Post 2 cycles of chemotherapy patient presented with a non regressed lesion
Post 6 cycles of chemotherapy patient presented with painfully blind eye Red eye with poor glow. Vitreous hemorrhage with retinal detachment
B Scan and MRI Vitreous hemorrhage with retinal detachment MRI- Retinal detachment with bleed beneath retinal layers.
Histopathology The eye was enucleated and sent for histopathology exam Mature ganglion cell Sections studied from eye ball showed a neoplasm arising from the optic nerve head area composed of oval to spindly cells arranged in bundles admixed with large ganglionic cells in a fibrillary stroma
Immunohistochemistry Diffuse GFAP positive neuronal fibres S100 positive ganglion cell The ganglion cells are positive for S100. The neuronal fibres are positive GFAP
Discussion • Retinoblastoma is the most common primary intraocular malignancy1. • Ganglioneuromas are benign tumors of the sympathetic nervous system • We present a case of ganglioneuroma in the most unusual location ie the retina
Ganglioneuromas contain mature cell elements and are considered benign. • Common sites of occurrence are posterior mediastinum, adrenal gland and paraspinalretroperitoneum. • Rarely occur in the CNS and there are very few case reports of the tumor involving the eye ball. • The occasional presence of this neoplasm outside the autonomic nervous system may be caused by aberrant rests of neural crest tissue. • A case report of choroidalganglioneuroma in neurofibromatosis has been reported by Woong et al2.
A case of ganglioneuroma of chiasm and optic nerves has been described by Cogan et al3. • There is a single case of orbital ganglioneuroma described4. • A case of retinal ganglioneuroma has been described but the pathological diagnosis has been questioned3 .
References 1. Retina –Stephen Ryan. 2. Choroidal ganglioneuroma in neurofibromatosis Graefe’s Archives for clinical and experimental ophthalmology 1983 220:25-31 3. Ganglioneuroma of chiasm and optic nerves. Archives 1961 Apr65:481-2 4. Orbital ganglioneuroma in a patient with chronic progressive proptosis Archives of ophthalmology vol.122,nov 2004 5. Clinical and fluorescein angiographic characteristics of late onset retinoblastoma with Coats’ response in children. Investigative ophthalmology and Visual Science 2004:45 6. Retrospective study of childhood ganglioneuroma Journal of clinical oncology V 26:1710-1716