ArticleCureus2025
Craniovertebral Junction Compression in Patients With Morquio Syndrome: Case Series and Literature Review.
Article in Cureus, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Authors and funding
5 authors.
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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.
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