Attending Neurosurgeon Geneva University Hospitals Geneva, CH
Introduction: X-linked hypophosphatemic disease (XLH) is a rare genetic disorder that disrupts bone metabolism due to defective phosphate regulation, primarily caused by excessive renal phosphate wasting. XLH leads to osteomalacia, skeletal abnormalities, and is the most common cause of inherited vitamin D-resistant rickets. In some patients, heterotopic ossification of the ligamentum flavum and paravertebral ligaments can occur, resulting in spinal cord compression and the development of myelopathy. Due to its rarity, there is a lack of large case series evaluating patient demographics and surgical outcomes.
Methods: We conducted a PRISMA-P based systematic review on spine surgery and X-linked hypophosphatemia between 1960-2022. 25 original articles were included, of which 33 clinical cases could be retrieved. In addition, we present an illustrative case.
Results: 33 patients (16 females and 17 males) with spinal cord compression due to XLH were included in this systematic review. 31 out of 33 patients underwent surgery (1 death and 1 refusal of surgery). The mean age of onset of symptoms was 41 years. 68% (21/31) had marked improvement of their symptoms after surgery, and 52% (16/31) had full recovery post-operatively with a mean follow-up time of 42 months. Recurrence rate was found to be 21% (7/33). Duraplasty from thecal tear was required in two individuals. One case of posterior fossa decompression was complicated by cranial nerve palsies.
Conclusion : Patients with XLH requiring surgery generally have good functional outcomes and low complication rates. However, recurrence is not uncommon, supporting long-term follow-up.