Primary orbital ganglioneuroblastoma: A case report

Abstract

Background: Ganglioneuroblastoma (GNB) is a neoplasm that arises from the primitive cells of the sympathetic nervous system during childhood. The current case is very unique because of the initial primary tumor manifestation in the orbit and an adrenal tumor being observed later during follow-up.

Case presentation: A 2-year-old girl presented to the Ophthalmology Department of our hospital complaining of swelling of the left upper eyelid for approximately one month. Orbital computed tomography (CT) revealed a left orbital mass with bone destruction. Thoracic and abdominal CT indicated no abnormalities. The mass was surgically resected, and histopathological analysis confirmed it as GNB. During follow-up, abdominal CT detected an adrenal tumor with internal calcification, a calcified nodule on the left side of the abdominal aorta, and mesenteric lymph nodes. Accordingly, primary orbital GNB and metastatic adrenal GNB were the possible considerations. We removed the adrenal tumor, and the patient underwent chemotherapy. However, the patient died 18 months after the ophthalmic surgery.

Conclusion: Primary orbital GNB in children is easily misdiagnosed because of its rare occurrence and atypical clinical findings. Imaging methods combined with histopathological examination contribute to the detection and diagnosis of primary and metastatic GNBs. Thus, timely surgery combined with adjuvant chemotherapy and long-term follow-up is essential for controlling the metastasis of GNB and improving the survival rate of patients.

Keywords: adrenal gland; orbit; primary ganglioneuroblastoma.

Figure 1

The ocular appearance shows swelling of the lateral superior part and the lower eyelid of the left eye.

Figure 2

The radiological findings of the 2-year-old girl with an orbital mass. (a) Orbital axial CT showing the soft tissue mass on the lateral orbital rim of the left eye; (b) orbital coronal CT in the bone window showing the soft tissue mass on the lateral superior orbital rim of the left eye, with bone destruction in the lateral wall of the left orbit.

Figure 3

The gross picture shows two masses measuring approximately 2.5 cm × 2 cm × 1.5 cm and 2.5 cm × 1.5 cm × 1 cm in size.

Figure 4

Histopathological examination of the tumor. (a) Hematoxylin-eosin (H&E) staining results of the tumor showed neuroblasts at different degrees of differentiation arranged in nests and mature gangliocytes with fibrous connective tissue septa (H&E, original magnification, 200×); (b) the number of CD56-positive tumor cells was 175.7 ± 6.5 per 3 high power field (HPF) (CD56, original magnification, 200×); (c) immunohistochemical staining results were positive for NSE and the number of these tumor cells was 163.3 ± 5.6 per 3 HPF (NSE, original magnification, 200×); (d) the number of Syn-positive tumor cells was 172.1 ± 25.2 per 3 HPF (Syn, original magnification, 200×); (e) the number of NeuN-positive cells was 122.7 ± 11.6 per 3 HPF (NeuN, original magnification, 200×); (f) the proportion of Ki-67-positive cells was 2–5% per HPF (Ki-67, original magnification, 200×). Scale bar = 200 μm. ImageJ 1.50b with cell counter plugin (https://imagej.nih.gov/ij/) was used for cell counting following the online guide.

Figure 5

Abdominal CT findings. (a) A plain scan showing a left adrenal tumor of approximately 1.5 cm × 2.2 cm × 2.7 cm size (black arrow); (b) a plain scan showing a calcified nodule on the left side of the abdominal aorta (black arrow); (c) an enhanced scan revealing left adrenal tumor with increased calcification inside (black arrow); (d) an enhanced scan showing the mesenteric lymph nodes (black arrow).