Clinical photograph prior to the first surgery showing proptosis of the right eye.
Axial view of an orbital T1-weighted magnetic resonance image showing an enhancing mass in the infratemporal, extraconal space and around the right zygoma.
Coronal (A) and axial (B) views on computed tomography showing a mass deep in the orbit, adherent to the bone.
Hematoxylin-eosin staining showing interlacing fascicles of spindle cells along with mature ganglion cells within a neurofibrillary matrix (A), S-100–positive ganglion cells (B), and synaptophysin-positive ganglion cells (C) (original magnification ×200).
Choi HY, Lee JH, Park JM, Shin MK. Orbital Ganglioneuroma in a Young Healthy Person. Arch Ophthalmol. 2009;127(2):222-229. doi:10.1001/archophthalmol.2008.573
Ganglioneuroma is considered to be the benign counterpart of neuroblastoma. Orbital involvement of ganglioneuroma is extremely rare, and to our knowledge only 2 cases have been reported. One was a case of direct extension to the orbit from an adjacent sinus, and the other was in a patient who had a history of stage IV neuroblastoma.1 This is the first reported case of orbital ganglioneuroma in a young healthy person.
A 15-year-old Korean boy had progressive proptosis of the right eye during a 4-year period (Figure 1). The proptosis had advanced at an increasing rate in the 6 months leading up to the patient's initial visit. His general medical history was unremarkable. Eye examination disclosed 2 mm of proptosis in the right eye. His best-corrected visual acuity was 20/20 OU. Intraocular pressures were 16 mm Hg OD and 14 mm Hg OS, and the pupils were reactive to light bilaterally with no afferent pupillary defect. Funduscopic examination revealed no abnormal findings.
Magnetic resonance imaging and computed tomography of the orbit obtained before biopsy showed an irregularly enhancing mass (2.7 × 1.7 × 2.7 cm) in the right, infratemporal, extraconal space along with bony hypertrophy of the zygoma (Figure 2 and Figure 3). The neoplasm appeared homogeneous in composition and there was no evidence of bony metastasis. During incisional biopsy, a lesion with a gray-tan surface was found to be adherent to the adjacent bony structures. Histopathologic examination showed mature ganglion cells in a neurofibrillary matrix with no neuroblastic component. Immunoreactivity for S-100 protein and synaptophysin was positive in the ganglion cells (Figure 4). These findings were consistent with ganglioneuroma. A secondary operation for debulking the mass and reshaping the zygoma was performed. Our patient has been followed up for more than 6 months, with no evidence of recurrence. He does not have diplopia or proptosis, and visual acuity is 20/20 OU.
Tumors of the sympathetic nervous system include neuroblastomas, ganglioneuroblastomas, and ganglioneuromas. All are derived from neural crest cells and are considered to represent different maturational steps of a unique neoplasm.
Ganglioneuromas are well-differentiated, benign tumors composed of mature Schwann and sympathetic ganglion cells.2 They are associated with neurofibromatosis type I and multiple endocrine neoplasia.3 There are 2 subtypes of ganglioneuroma: maturing and mature. The maturing subtype is composed predominantly of ganglioneuromatous stroma with scattered collections of differentiating neuroblasts and/or maturing ganglion cells. The mature subtype is composed of mature Schwannian stroma and ganglion cells. It is located most frequently in the posterior mediastinum and the retroperitoneum; other sites of origin are much less common.4 A case of a ganglioneuroma arising in the orbit has been reported, but the patient had a history of neuroblastoma.1 Ours is the first reported case of an orbital ganglioneuroma in a healthy person.
Ultrasonography, computed tomography, and magnetic resonance imaging provide only an unspecified diagnosis that has to be confirmed using pathologic studies.5
Ganglioneuromas are benign neoplasms, so neither extensive surgical resection nor chemotherapy is usually necessary, provided the surgical specimen is sufficient to allow histopathologic study and to assure no malignant components are present. Excision may be considered when the pathologic diagnosis is vague or visual function is impaired by the mass. In our case, progressive proptosis and corneal complications prompted an excisional biopsy and a secondary debulking operation.
Ganglioneuromas have a tendency to remain silent for an extended period of time, and they are often associated with long-term disease-free survival.2 Some authors have reported malignant transformation, either spontaneously or after radiotherapy.3 Therefore, considering the potential growth of ganglioneuromas in patients with incomplete resection, regular follow-up examinations and imaging are necessary.6
Correspondence: Dr Choi, Department of Ophthalmology, School of Medicine, Pusan National University Medical Research Institute, Pusan National University, 1-10, Ami-dong, Seo-gu, Busan, South Korea 602-739 (firstname.lastname@example.org).
Financial Disclosure: None reported.
Funding/Support: This work was supported for 2 years by a research grant from Pusan National University.