Schwannomatosis of the Spinal Accessory Nerve: A Case Report

Abstract

Schwannomatosis is a distinct syndrome characterized by multiple peripheral nerve schwannomas that can be sporadic or familial in nature. Cases affecting the lower cranial nerves are infrequent. Here, the authors present a rare case of schwannomatosis affecting the left spinal accessory nerve. Upon genetic screening, an in-frame insertion at codon p.R177 of the Sox 10 gene was observed. There were no identifiable alterations in NF1, NF2, LZTR1, and SMARCB1. This case demonstrates a rare clinical presentation of schwannomatosis in addition to a genetic aberration that has not been previously reported in this disease context.

Keywords

spinal accessory nerve tumor - schwannomatosis - schwannoma - neck mass - diffusion tensor imaging

• References

• 1 International Agency for Research on Cancer. WHO Classification of Tumors of the Central Nervous System. 4th ed. Geneva: World Health Organization; 2016
• 2 MacCollin M, Chiocca EA, Evans DG. , et al. Diagnostic criteria for schwannomatosis. Neurology 2005; 64 (11) 1838-1845
• 3 Evans DG, Bowers NL, Tobi S. , et al. Schwannomatosis: a genetic and epidemiological study. J Neurol Neurosurg Psychiatry 2018; 89 (11) 1215-1219
• 4 Kresak JL, Walsh M. Neurofibromatosis: a review of NF1, NF2, and Schwannomatosis. J Pediatr Genet 2016; 5 (02) 98-104
• 5 Huang JH, Simon SL, Nagpal S, Nelson PT, Zager EL. Management of patients with schwannomatosis: report of six cases and review of the literature. Surg Neurol 2004; 62 (04) 353-361 , discussion 361
• 6 Westhout FD, Mathews M, Paré LS, Armstrong WB, Tully P, Linskey ME. Recognizing schwannomatosis and distinguishing it from neurofibromatosis type 1 or 2. J Spinal Disord Tech 2007; 20 (04) 329-332
• 7 Abdulla FA, Sasi MP. Schwannomatosis of cervical vagus nerve. Case Rep Surg 2016; 2016: 8020919
• 8 Bray DP, Chan AK, Chin CT, Jacques L. Large cervical vagus nerve tumor in a patient with neurofibromatosis type 1 treated with gross total resection: case report and review of the literature. J Brachial Plex Peripher Nerve Inj 2016; 11 (01) e48-e54
• 9 Merker VL, Esparza S, Smith MJ, Stemmer-Rachamimov A, Plotkin SR. Clinical features of schwannomatosis: a retrospective analysis of 87 patients. Oncologist 2012; 17 (10) 1317-1322
• 10 Antinheimo J, Sankila R, Carpén O, Pukkala E, Sainio M, Jääskeläinen J. Population-based analysis of sporadic and type 2 neurofibromatosis-associated meningiomas and schwannomas. Neurology 2000; 54 (01) 71-76
• 11 Smith MJ, Kulkarni A, Rustad C. , et al. Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis. Am J Med Genet A 2012; 158A [phone]
• 12 Mehta GU, Feldman MJ, Wang H, Ding D, Chittiboina P. Unilateral vestibular schwannoma in a patient with schwannomatosis in the absence of LZTR1 mutation. J Neurosurg 2016; 125 (06) 1469-1471
• 13 Louvrier C, Pasmant E, Briand-Suleau A. , et al. Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis. Neuro-oncol 2018; 20 (07) 917-929
• 14 Pu YM, Tang EY, Yang XD. Trapezius muscle innervation from the spinal accessory nerve and branches of the cervical plexus. Int J Oral Maxillofac Surg 2008; 37 (06) 567-572