Sir,

Ganglioneuromas are rare, benign tumours, forming part of a spectrum of tumours arising from primordial neural crest cells in the sympathetic nervous system.1 However, they can dedifferentiate into the malignant neuroblastoma and ganglioneuroblastoma.1 Choroidal ganglioneuroma is extremely rare.2 Herein, we report a patient with neurofibromatosis type 1 (NF-1) who underwent evisceration for a painful blind eye, subsequent histopathological examination (HPE) revealing a clinically unsuspected choroidal ganglioneuroma.

Case report

A 11-year-old boy presented with severe pain in his congenitally enlarged blind left eye. He had undergone a glaucoma filtering surgery at 1 year of age, details of which were unavailable.

Visual acuity in the normal right eye was 6/6. There was an upper eyelid plexiform neurofibroma on the left side and multiple facial café-au-lait spots (Figure 1, left). The left eye was buphthalmic with multiple iris Lisch nodules and a cataractous lens precluding fundus examination. Intraocular pressure was 34 mmHg. Computed tomography (CT) scan showed an enlarged left eye. The greater wing of the sphenoid was hypoplastic (Figure 1, right). A clinical diagnosis of NF-1 with a painful blind left eye was made. As the patient desired cosmetic improvement, an evisceration with silicone implant with subsequent prosthesis fitting was considered. At surgery, there was no evident abnormal intraocular tissue.

Figure 1
figure 1

NF-1 with choroidal ganglioneuroma: external photograph of the face showing bupthalmos of the left eye and multiple café-au-lait spots on the face (left) and an axial CT scan showing enlargement of the left eye and absence of the greater wing of sphenoid (right).

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HPE revealed thickened choroid with a cellular lesion, consisting of bundles of spindle cells admixed with clusters of ganglion cells, with no atypia, necrosis, or pleomorphism (Figure 2, left). The ganglion cells showed abundant cytoplasm, a large vesicular nucleus with prominent nucleoli and stained brightly with neuron-specific enolase (Figure 2, centre). These features were diagnostic of a benign choroidal ganglioneuroma. Immunohistochemistry with neurofilament (Figure 2, right) confirmed the presence of ganglion cells and with S-100 confirmed the neural bundles.

Figure 2
figure 2

NF-1 with choroidal ganglioneuroma: histopathology of the choroidal mass showing a cellular lesion consisting of bundles of spindle cells admixed with clusters of ganglion cells (haematoxylin and eosin, × 500) (left), immunohistochemistry showing neuron-specific enolase staining of the ganglion cells (centre), and immunohistochemistry showing neural filament protein within the cytoplasm of the spindle cells (right).

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Comment

Patients with NF-1 have inactivation of the 17q11 tumour suppressor gene predisposing to tumours of neural crest origin.3 A decrease in neurofibrin production with subsequent increase in Ras-GTPase activity causes cellular proliferation and mitosis.3

Choridal ganglioneuroma in NF-1 is very rare, with MEDLINE search revealing only one published case report.2 In this patient also, enucleation for a painful blind eye revealed an unsuspected choroidal ganglioneuroma.

Ganglioneuromas are most commonly located in the posterior mediastinum (42%) and retroperitoneum (38%).4 Reports exist of ganglioneuromas in various organ systems of the body in association with NF-1, with an associative relation being hypothesized.1

We report a patient with NF-1 who underwent evisceration with HPE demonstrating a hitherto unsuspected choroidal ganglioneuroma. Reports of local recurrences with malignant transformation are of concern, entailing close follow-up.1