Venous pathology targeted surgical management in Hirayama disease: A comprehensive case series of nine cases exploring this potential etiology.

Abstract

Objective: Hirayama disease is a rare cause of cervical myelopathy predominantly affecting young individuals. The disease is classically characterized by muscle atrophy in the distal upper limbs. While various etiopathogenesis such as dural sac dysplasia, nerve root dysplasia, structural abnormalities of the spinal ligament, and venous dysplasia have been proposed, this study explores the potential role of venous pathology and surgical management on the basis of it.

Methodology: This is a prospective descriptive case series of nine cases. The diagnosis was made based on the Huashan diagnostic criteria which includes clinical manifestation, imaging, and electrophysiology. In cases where magnetic resonance imaging (MRI) failed to demonstrate engorged veins, a computed tomography (CT) venogram of the cervical spine was used as an imaging tool. All patients underwent cervical laminectomy and coagulation of the posterior epidural venous plexus with or without laminoplasty. All the patients were followed up regularly; clinical improvement and neck disability index were assessed.

Results: All nine patients were male and exhibited classical clinical features, electrophysiological abnormalities, and MRI findings except, in one patient where a CT venogram helped in establishing the diagnosis as the MRI was inconclusive. Postoperatively, all patients had neurological improvement and stabilization of the disease. All patients who underwent CT venogram and cervical spine X-ray in neutral and dynamic position demonstrated no recurrence of engorged venous plexus or significant instability except one patient developing kyphosis. One patient experiencing symptoms in the other limb underwent a second surgery.

Conclusion: This comprehensive case series strongly supports venous pathology as a potential etiology of Hirayama disease. Surgical management with laminectomy and venous coagulation with or without expansile laminoplasty has delivered consistent improvement in neurological outcomes and long-term disease stabilization without the restriction of movements and lesser complications. However, further research is warranted to elucidate the mechanism underlying cervical venous dilatation.