Bilateral dumbbell-shaped ganglioneuroma of the C2 roots in a patient with Charcot-Marie-Tooth disease: illustrative case.

backgroundGanglioneuromas are rare, slow-growing, benign tumors of the sympathetic nervous system that originate from the neural crest. Ganglioneuroma has been associated with neurofibromatosis type 1 (NF1) in case reports, with 9 case reports describing bilateral, dumbbell-shaped ganglioneuroma. Charcot-Marie-Tooth disease type 1A (CMT1A) results from a genetic mutation causing demyelination, leading to muscle contraction and weakness. To the authors' knowledge, no case reports have described the association of Charcot-Marie-Tooth (CMT) disease with bilateral cervical dumbbell-shaped ganglioneuroma. OBSERVATIONS: The authors present the case of a 45-year-old female with CMT1A presenting with progressive upper extremity weakness with spastic movements found to have contrast-enhancing tissue at C1-2 causing lateral compression on MRI. Surgery was planned for extension of prior C2-T1 fusion to the occiput and resection of contrast-enhancing mass. Intraoperatively, the bilateral masses had been evidently compressing the thecal sac. Pathological analysis was consistent with ganglioneuroma. LESSONS: CMT1A and NF1 both affect the nervous system via myelination issues in their own way. Although the underlying pathophysiologies of myelin dysregulation in CMT and NF1 are different, their possible link to ganglioneuroma remains to be further investigated. https://thejns.org/doi/10.3171/CASE25758.