Bilateral and symmetric C1-C2 dumbbell ganglioneuromas associated with neurofibromatosis type 1: A case report

Abstract

Background: Ganglioneuroma (GN) is a rare and benign tumor that originates from autonomic nervous system ganglion cells. The most frequently involved sites are the posterior mediastinum, the abdominal cavity, and the retroperitoneal space. It rarely occurs in the cervical area, compressing the spinal cord. Neurofibromatosis type 1 (NF-1) is an autosomal dominant inheritance disorder, whose prevalence rate approximates one per 3000.

Case summary: We report an extremely rare case of bilateral and symmetric dumbbell GNs of the cervical spine with NF-1. A 27-year-old man with NF-1 presented with a one-year history of gradually progressive right upper extremity weakness and numbness in both hands. Magnetic resonance imaging showed bilateral and symmetric dumbbell lesions at the C1-C2 levels compressing the spinal cord. We performed total resection of bilateral tumors, and the postoperative histopathological diagnosis of the resected mass was GN. After operation, the preoperative symptoms were gradually relieved without complications. To our knowledge, this is the sixth report of cervical bilateral dumbbell GNs.

Conclusion: In some cases, cervical bilateral dumbbell GNs could be associated with NF-1. The exact diagnosis cannot be obtained before operation, and pathological outcome is the current gold standard. Surgical resection is the most effective option, and disease outcome is generally good after treatment.

Keywords: Bilateral; Case report; Cervical; Dumbbell; Ganglioneuroma; Surgery.

Figure 1

Preoperative magnetic resonance images of the patient. A: Axial T1-weighted image shows bilateral dumbbell masses displaying low signal (arrows); B and D: Axial and coronal T2-weighted images show bilateral dumbbell masses displaying high signal (arrows); C and E: Axial and sagittal T1-weighted images after administration of gadolinium-diethylenetriaminepentaacetic acid depict prominent heterogeneous enhancement of the lesions (contrast dose: 15 mL: 7.04 g) (arrows).

Figure 2

Histopathology of the resected lesion. A: Hematoxylin and eosin staining showing spindle-shaped tumor cells, fusiform nuclei, and ganglion cells scattered in the tumor tissue (arrow). B-F: Immunohistochemistry showing Ki-67 (1%+) (B), NeuN (Scattered+) (C), NF (Scattered+) (D), S-100 (+) (E), and Vimentin (+) (F) (arrows).

Figure 3

Postoperative magnetic resonance images of the patient. Axial T1-weighted image (A), axial and coronal T2-weighted images (B and D), and axial and sagittal contrast-enhanced T1-weighted images (C and E) showing no evidence of recurrence (arrows).