Cervical Dumbbell: Ganglioneuromas Causing Myelopathy in a Case of Neurofibromatosis Type-I: Case Report and Literature Review

Abstract

Background Data: Ganglioneuromas are rare benign tumors arising from the sympathetic nervous system. They occasionally grow in a dumbbell fashion extending into the spinal canal extradurally. However, ganglioneuromas of the cervical spine with intradural extension or multiple locations or in association with neurofibromatosis type-I are rare.Purpose: Our aim is to describe a man with cervical compressive myelopathy at C2 level caused by dumbbell shaped intradural extramedullary ganglioneuroma and multilevel spinal lesions (ganglioneuromas) associated with neurofibromatosis type-I with genetic predisposition.Study Design: Case report and review of the literature.Patient and Method: Twenty eight year-old man with NF-I presented with acute history of progressive quadriparesis. Magnetic resonance imaging showed bilateral dumbbell masses at the C2 level compressing the spinal cord. A systemic imaging survey of the patient showed numerous asymptomatic foraminal and extraforaminal tumors at all neuroforamina of the spine.Results: Surgical decompression of the spinal cord by resections of bilateral tumors at the C2 level alleviated patient symptoms. Histopathological diagnosis was ganglioneuroma. The patient was heterozygous in the NF-I gene for a sequence variant defined as c.970T>C, and predicted to result in the amino acid substitution p.Cys324Arg.Conclusion: The case reported here is very unusual because of its type, its location as dumbbell spinal ganglioneuroma at level of 2nd cervical spine, being associated with other ganglioneuromas at other spinal levels and being associated with NF-I molecular mutation. (2017ESJ143)