Neurosurgical manifestations and management of mucopolysaccharidoses: A systematic review.
Victor M Lu, Sai Sanikommu, Sima Vazquez et al.
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In 30 seconds
This PRISMA-guided systematic review synthesized contemporary reports of neurosurgical manifestations and management across mucopolysaccharidosis (MPS) subtypes. It included 78 studies comprising 983 patients, with a mean age of 12.4 years. Neurosurgical manifestations were reported in 819 patients (83%); spinal deformity (29%) and hydrocephalus (28%) were most frequent. Patterns varied by subtype, and surgical treatment was reported in 74% of hydrocephalus cases, 41% of craniovertebral junction cases, and 23% of spinal cord pathology cases. Studies of patients without prior systemic therapy reported higher rates of surgical intervention.
Key findings
- Neurosurgical manifestations were reported in 819 patients (83%) across the included studies.
- Spinal deformity (29%) and hydrocephalus (28%) were the most frequently reported manifestations.
- Hydrocephalus was surgically treated in 74% of instances, compared with 41% for craniovertebral junction and 23% for spinal cord pathology.
- Subtype patterns differed: spinal deformity predominated in MPS I (24%), hydrocephalus in MPS II (20%), and craniovertebral junction instability/compression in MPS IV (12%).
Why it matters
The review indicates that neurosurgical problems are common across reported MPS populations and include potentially consequential cranial and spinal disease. The differing patterns by subtype may help frame clinical assessment, while the reported intervention rates underscore that these manifestations often lead to surgery. The findings also highlight the importance of recognizing neurological and structural complications as part of MPS care.
What to keep in mind
The review aggregates a fragmented literature; the abstract does not report comparative effect estimates or establish that systemic therapy caused lower intervention rates.