Abstract
BACKGROUND: Hirayama disease (HD) is a rare, nonfamilial neuromuscular disease causing cervical myelopathy and deformity, most commonly effecting pubertal Asian males. Patients whose nonoperative treatment fails and who cannot tolerate long-term cervical immobilization, experience relapse after arrest of symptoms, or present with severe features warrant surgical treatment. Here, the authors present an unusual case of HD that resulted in rapid progression of severe cervical kyphosis and discuss surgical management strategies. OBSERVATIONS: A 15-year-old male presented with unprovoked neck pain, progressive chin-on-chest phenomenon, and cervical myelopathy. Imaging revealed a severe subaxial cervical kyphosis of 88° and severe spinal cord compression secondary to changes within the thecal sac, ligaments, and bony elements. He underwent a multistage surgery involving halo gravity traction, C3-6 anterior cervical discectomy and fusion, and C2 to T2 posterior instrumented fusion with C3-5 Smith-Petersen osteotomies. Cervical subaxial pedicle screws facilitated deformity correction through a cantilever technique. LESSONS: HD is rare and often self-limited. For severe or refractory cases of HD, guidelines for surgical management have been suggested, with a variety of approaches deemed efficacious. This is the first case of a patient presenting with such severe cervical deformity; early diagnosis and recognition is the first step toward prompt, adequate management.