Complicated Spinal Stenosis and Spinal Deformity in Patients with Achondroplasia: Case Series and Review of the Literature

Abstract

Objective Due to the low incidence of achondroplasia (Ach), there is a relative lack of research on the treatment and management of spinal complications of Ach. Characteristics and interventions for spinal complications in patients with Ach are in urgent need of investigation. This study aimed to summarize the common spinal complications in patients with Ach and the corresponding treatment strategies. Methods This study is a retrospective case series. We retrospectively collected and analyzed Ach cases who presented to our hospital with neurological symptoms due to skeletal anomalies between February 2003 and October 2023. A total of seven patients were included, four males (57.1%) and three females (42.9%) with a mean age of 38.57 years. Patient pain/numbness visual analog scale (VAS), preoperative Oswestry disability index (ODI), development of neurological complaints, and presentation of skeletal abnormalities were collected and followed up routinely at 3, 6, 12 and 24 months postoperatively. The relevant literature was reviewed. Results Seven patients were included in this series. The mean preoperative VAS was 4, and the mean preoperative ODI was 50.98%. All patients had concomitant spinal stenosis, four with thoracolumbar kyphosis (TLK), and one with scoliosis. Six of the seven patients underwent surgery, and one patient received conservative treatment. In the routine follow‐ups, all patients experienced satisfactory relief of symptoms. Only one of the seven patients developed a new rare lesion adjacent to the primary segments. Six months after the first surgery, a follow‐up visit revealed thoracic spinal stenosis caused by ossification of the ligamentum flavum, and his symptoms were relieved after thoracic decompression surgery. Conclusions Ach seriously affects the skeletal development of patients and can lead to the development of spinal stenosis, spinal deformities, and other complications of the locomotor system. Surgery remains the primary treatment for complications of the musculoskeletal system. Specific surgical approaches and comprehensive, long‐term management are critical to the treatment of patients with spinal complications.

Keywords

• Achondroplasia
• Kyphosis
• Scoliosis
• Spinal Stenosis
• Surgery