Craniovertebral Junction Pathological Features and Their Management in the Mucopolysaccharidoses

  • Erik Pietro SganzerlaEmail author
  • Carlo Giussani
  • Marco Grimaldi
  • Rossella Parini
  • Pablo Ingelmo
  • Andrea Trezza
  • Massimiliano Visocchi
Part of the Advances and Technical Standards in Neurosurgery book series (NEUROSURGERY, volume 40)


The mucopolysaccharidoses (MPS) are multisystemic inherited metabolic diseases caused by the deficiency of the enzymes involved in the degradation of glycosaminoglycans (GAGs), which variably involve the central nervous system, heart, lungs, and bones.

Undegraded or only partly degraded GAGs accumulate in the extracellular matrix, joint fluid, and connective tissue leading to widespread tissue and organ dysfunction.

The introduction of hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) has positively affected the natural history of MPS patients and their life expectancy. However, the presence of spinal abnormalities and deposition of GAGs in soft tissues remains nearly unaltered.

Abnormalities of the craniovertebral junction (CVJ) and GAG deposits can result in spinal cord compression with slowly progressive myelopathy or acute posttraumatic tetraplegia.

The current paper discusses neuroimaging findings in a consecutive series of 42 MPS patients followed at our Center for Metabolic Diseases and their neurosurgical issues.

Current recommendations for decompression and fusion will be discussed according to our experience and review of the literature.


Mucopolysaccharidoses Craniovertebral junction Occipitocervical stabilization Pediatric neurosurgery Rigid internal fixation Spinal cord compression Diagnostic imaging 


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Copyright information

© Springer International Publishing Switzerland 2014

Authors and Affiliations

  • Erik Pietro Sganzerla
    • 1
    Email author
  • Carlo Giussani
    • 1
  • Marco Grimaldi
    • 2
  • Rossella Parini
    • 3
  • Pablo Ingelmo
    • 4
  • Andrea Trezza
    • 1
  • Massimiliano Visocchi
    • 5
  1. 1.Clinica Neurochirurgica, Università degli Studi Milano-Bicocca, Ospedale San GerardoMonza (MB)Italy
  2. 2.Dipartimento di Neuroradiologia, Servizio di RadiodiagnosticaOspedale San GerardoMonzaItaly
  3. 3.Clinica Pediatrica, “Fondazioni Mariani” per le Malattie MetabolicheUniversità degli Studi Milano-Bicocca, Fondazione Monza Brianza per il Bambino e la Mamma, Ospedale San GerardoMonzaItaly
  4. 4.Anestesia e Rianimazione, Servizio di Anestesia PediatricaUniversità degli Studi Milano-Bicocca, Ospedale San GerardoMonzaItaly
  5. 5.Dipartimento di NeurochirurgiaUniversità Cattolica del Sacro Cuore, Policlinico Universitario “Agostino Gemelli”, largo ARomeItaly

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