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Craniovertebral Junction Pathological Features and Their Management in the Mucopolysaccharidoses

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Pediatric Craniovertebral Junction Diseases

Part of the book series: Advances and Technical Standards in Neurosurgery ((NEUROSURGERY,volume 40))

Abstract

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.

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Author information

Authors and Affiliations

  1. Clinica Neurochirurgica, Università degli Studi Milano-Bicocca, Ospedale San Gerardo, via Pergolesi 33, Monza (MB), 20900, Italy

    Erik Pietro Sganzerla MD, Carlo Giussani & Andrea Trezza

  2. Dipartimento di Neuroradiologia, Servizio di Radiodiagnostica, Ospedale San Gerardo, via Pergolesi 33, Monza, Italy

    Marco Grimaldi

  3. Clinica Pediatrica, “Fondazioni Mariani” per le Malattie Metaboliche, Università degli Studi Milano-Bicocca, Fondazione Monza Brianza per il Bambino e la Mamma, Ospedale San Gerardo, via Pergolesi 33, Monza, Italy

    Rossella Parini

  4. Anestesia e Rianimazione, Servizio di Anestesia Pediatrica, Università degli Studi Milano-Bicocca, Ospedale San Gerardo, via Pergolesi 33, Monza, Italy

    Pablo Ingelmo

  5. Dipartimento di Neurochirurgia, Università Cattolica del Sacro Cuore, Policlinico Universitario “Agostino Gemelli”, largo A, Gemelli 8, Rome, Italy

    Massimiliano Visocchi

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  1. Erik Pietro Sganzerla MD
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  2. Carlo Giussani
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  3. Marco Grimaldi
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  4. Rossella Parini
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  5. Pablo Ingelmo
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  6. Andrea Trezza
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  7. Massimiliano Visocchi
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Correspondence to Erik Pietro Sganzerla MD .

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Editors and Affiliations

  1. INI-International Neuroscience Institute, Hannover, Germany

    Concezio Di Rocco

  2. Department of Neurosurgery, Hacettepe University, Sihhiye, Ankara, Turkey

    Nejat Akalan

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Sganzerla, E.P. et al. (2014). Craniovertebral Junction Pathological Features and Their Management in the Mucopolysaccharidoses. In: Di Rocco, C., Akalan, N. (eds) Pediatric Craniovertebral Junction Diseases. Advances and Technical Standards in Neurosurgery, vol 40. Springer, Cham. https://doi.org/10.1007/978-3-319-01065-6_11

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  • DOI: https://doi.org/10.1007/978-3-319-01065-6_11

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