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Risk and clinical characteristics of spinal cord compression across different mucopolysaccharidosis types: A

Insung Kim1, Juyoung Sung1, Yoon Ji Ahn1

  • 1Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

Medicine
|October 21, 2024
PubMed

Insights

Spinal cord compression (SCC) is common in mucopolysaccharidosis (MPS). Risk and causes of SCC vary by MPS type, necessitating individualized care for early detection and intervention.

Area of Science:

  • Medical Genetics
  • Neurology
  • Orthopedics

Background:

  • Mucopolysaccharidosis (MPS) involves glycosaminoglycan accumulation, leading to complications like spinal cord compression (SCC).
  • Limited data exists comparing SCC clinical features across diverse MPS types.
  • Understanding these variations is crucial for patient management.

Purpose of the Study:

  • To investigate the timing, location, and causes of SCC in MPS patients.
  • To compare the risk and clinical characteristics of SCC across different MPS types.
  • To inform individualized approaches for SCC management in MPS.

Main Methods:

  • Retrospective cohort study of 183 MPS patients (January 1995 - March 2024).
  • Analysis of medical records to identify SCC diagnosis, timing, location, and causes.
  • Statistical comparison of SCC risk and characteristics by MPS type.

Main Results:

  • SCC occurred in 100% of MPS type VI patients, and frequently in types I and IV.
  • Median age at SCC diagnosis was 16.3 years; risk was significantly higher in types I, IV, and VI compared to type II.
  • Ligament thickening and skeletal deformities were common cervical causes, while kyphoscoliosis and disc issues affected the thoracolumbar spine.

Conclusions:

  • Spinal cord compression is a frequent complication in mucopolysaccharidosis, with varying risk and underlying causes depending on the specific MPS type.
  • Enzyme replacement therapy did not significantly alter SCC risk.
  • An individualized approach to early detection and intervention is essential for managing SCC in MPS patients.

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