Hereditary multiple exostoses with cervical spine involvement: a case report

Abstract

Introduction and Importance: Hereditary multiple exostoses (HME) is a rare genetic disorder characterized by the formation of multiple benign bone tumors known as osteochondromas. Management of HME involves a multidisciplinary approach encompassing surgical expertise and genetic counseling. This case report highlights the significance of such an approach in optimizing outcomes for patients with HME, emphasizing the importance of individualized treatment strategies and future management. Case Presentation: We present the case of a 12-year-old male patient with a history of HME, who presented with symptoms including progressively enlarging and painful mass at the posterior aspect of his neck since last year. Surgical intervention was undertaken to address symptomatic lesions, focusing on preserving joint function and alleviating discomfort. The surgical approach involved careful consideration of lesion characteristics and their impact on surrounding structures. Clinical Discussion: The case shows the importance of a tailored surgical approach in managing symptomatic osteochondromas associated with HME, highlighting the need for careful consideration of lesion characteristics and their impact on joint function. By integrating surgical expertise with genetic counseling, clinicians can optimize outcomes while addressing familial implications and ensuring informed decision-making. Conclusion: This case report illustrates the significance of a multidisciplinary approach encompassing surgical intervention and genetic counseling in the management of hereditary multiple exostoses. Through individualized treatment strategies and informed decision-making, clinicians can optimize outcomes for patients with HME while providing comprehensive support and guidance for future management.