Hereditary multiple exostosis with a rare involvement of cervical spine and an approach to management: A case report

Study Design: Case report. Objective: To present a rare case of hereditary multiple exostosis with cervical spine exostosis and its surgical management. Summary of Background Data: Hereditary multiple exostosis (HME), which is attributed to mutations in the EXT1 and EXT2 genes, is a rare genetic disorder that is autosomal dominant. Although commonly associated with exostosis mass in upper and lower limbs, the association with cervical spine exostosis is unusual and remarkable. Most of the time, the patients are observed and kept in conservative management until puberty, but surgical intervention may be required when the patient is symptomatic. Case: A 12-year-old boy presented with gradually increasing swellings around multiple joints, noticed since he was 5 years old, associated with similar swelling on the back of his neck, with difficulty in neck movements, making it difficult for him to carry out daily activities. The patient was diagnosed with a case of hereditary multiple exostosis associated with cervical spine exostosis after thorough clinical examination and advanced radiologic investigations. Due to the symptoms associated with the cervical spine exostosis, excision of the exostosis of the neck was carried out for better patient outcome. Conclusions: Hereditary multiple exostosis is a rare genetic disorder, and more so with association to cervical spine exostosis. The management protocol is to observe till maturity and intervene surgically with excision if the swelling obstructs normal movement or has associated complications.