Surgical treatment of craniovertebral stenosis in patients with mucopolysaccharidosis type I, II, and VI

Abstract

To analyze surgical treatment of craniovertebral stenosis in patients with mucopolysaccharidosis. Material and Methods. A total of 9 patients (4 men, 5 women) with mucopolysaccharidosis were operated on for craniovertebral stenosis in 2012–2017. All patients underwent clinical examination, standard radiography of the cervical spine with functional tests to assess atlantooccipital stability according to Rothman, and MRI to determine the degree of the spinal cord compression, stenosis of the spinal canal, and changes in soft tissues surrounding the spinal canal due to fibrosis and accumulation of glycosaminoglycans. Maximum stenosis at the C0–C2 level was noted in 5 patients, at C1–C2 in 2, at C2–C4 in 1, and at C0–C1 in 1. Myelopathy in the upper cervical spine was detected in five cases. The overall somatic and functional statuses, as well as neurological parameters were assessed. Follow-up examination and X-ray examination were performed at 3, 6 and 12 months after surgery, and further every 6 months. Results. The average follow-up period was 2.5 years. The age of the patients varied from 1.8 to 34 years. After 3, 6, and 12 months after surgery, instrumentation was radiologically stable in all cases, there were no bone resorption signs around the elements of instrumentation. Seven patients showed a regression of neurologic symptoms and positive dynamics in the somatic status according to the assessment scales. In one patient, the neurological status remained unchanged. In one case, a temporary deterioration in the condition was noted after a failed intubation attempt, which required emergency tracheostomy, and operation was postponed to a later date to stabilize the condition. Complications after surgical treatment were observed in five patients. In one case, pseudoarthrosis, rod fracture, and instrumentation instability developed 1.5 years after the intervention, and revision surgery was required. Wound healing problems were observed in three patients and a liquorrhea in the early postoperative period, which was stopped without revision intervention – in one case. Conclusion. Decompression and stabilization in patients with mucopolysaccharidosis should be performed in advance, before any neurological disorder development. Fixation is required to prevent the development of instability, post-laminectomy deformities, and progression of cicatricial stenosis. Timely initiation of enzyme-replacement therapy improves the results of mucopolysaccharidosis treatment.

Surgical Treatment of Craniovertebral Stenosis in Two Siblings With Type Vi Mucopolysaccharidosis

“…Neurological disorders have also been observed in other types of MPS. 4 Craniovertebral stenosis develops due to C2 odontoid process hypoplasia, atlantoaxial instability, and accumulation of glycosaminoglycans in the dura mater and posterior longitudinal ligament, which subsequently leads to compression myelopathy at this level, development of bulbar disorders, and central respiratory failure. 5 Due to this pathology's complex and rare nature, there is sparse literature on the treatment strategies for these patients.…”