# Craniovertebral Junction Compression in Patients With Morquio Syndrome: Case Series and Literature Review

## TL;DR

This study examines four Morquio syndrome patients who underwent surgery for spinal compression, finding that timely surgical intervention can improve neurological outcomes.

## Contribution

The paper presents a case series and literature review on surgical management of craniovertebral junction compression in Morquio syndrome, emphasizing the importance of early intervention.

## Key findings

- All four patients showed neurological improvement after surgical decompression.
- Three out of four patients had no motor deficits during follow-up.
- Surgical decompression is effective in halting neurological progression in MPS patients.

## Abstract

Mucopolysaccharidosis (MPS) is a group of lysosomal storage disorders characterized by defective degradation of glycosaminoglycans, resulting in progressive multisystem involvement. The central nervous system is most commonly affected, followed by the skeletal, cardiovascular, respiratory, and ophthalmological systems. MPS can cause craniovertebral junction (CVJ) stenosis due to the progressive accumulation of glycosaminoglycans (GAGs) in various connective tissues, including those of the spine. Cervical myelopathy is a serious and potentially reversible complication caused by odontoid hypoplasia, ligamentous thickening, and CVJ stenosis.

A retrospective case series of four paediatric patients, with a mean age of six years, who underwent neurosurgical intervention to relieve cervicomedullary compression (foramen magnum narrowing and C1 arch stenosis) at a single tertiary care center was conducted. Clinical presentation, relevant investigations, type of surgical management, and survival outcomes were reviewed through detailed analysis and follow-up data. Due to the limited sample size (N = 4), no formal statistical analysis was performed.

All patients showed preoperative clinical and radiological evidence of cervical cord compression. Postoperative outcomes were favorable in all four patients, with neurological improvement observed within six months of surgery. No major perioperative complications were reported. During follow-up (two to 68 months), three patients (75%) had no motor deficits, while one patient (25%) died following sudden respiratory distress at home five years post-surgery.

Cervical myelopathy in MPS patients requires early clinical suspicion and urgent imaging evaluation. Surgical decompression, either in the form of C1 posterior arch excision alone or combined with foramen magnum decompression, is effective in halting neurological progression and improving function. An individualized surgical plan based on preoperative imaging is therefore essential for optimal outcomes. Given the very small sample size, these findings should be considered exploratory and require confirmation in larger studies.