Surgical management of neurological manifestations of mucopolysaccharidosis disorders

Mol Genet Metab. 2017 Dec:122S:41-48. doi: 10.1016/j.ymgme.2017.09.011. Epub 2017 Sep 28.

Abstract

The mucopolysaccharidosis (MPS) disorders are ultra-rare lysosomal storage disorders associated with progressive accumulation of glycosaminoglycans (GAGs) in cells and tissues throughout the body. Clinical manifestations and progression rates vary widely across and within the different types of MPS. Neurological symptoms occur frequently, and may result directly from brain damage caused by infiltration of GAGs, or develop secondary to somatic manifestations such as spinal cord compression, hydrocephalus, and peripheral nerve entrapment. Management of secondary neurological manifestations often requires surgical correction of the underlying somatic cause. The present review discusses the surgical management of neurological disease in patients with MPS, including diagnostic imaging. Background information is derived from presentations and discussions during a meeting on the brain in MPS, attended by an international group of experts (April 28-30, 2016, Stockholm, Sweden), and additional literature searches.

Keywords: Diagnostic imaging; Hydrocephalus; Mucopolysaccharidosis; Neurological disease; Spinal cord compression; Surgery.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Brain / cytology
  • Brain / diagnostic imaging
  • Brain / enzymology
  • Brain / metabolism
  • Congresses as Topic
  • Glycosaminoglycans / metabolism
  • Glycosaminoglycans / toxicity
  • Humans
  • Hydrocephalus / diagnostic imaging
  • Hydrocephalus / etiology
  • Hydrocephalus / surgery
  • Intraoperative Neurophysiological Monitoring / methods*
  • Lysosomes / enzymology
  • Lysosomes / metabolism
  • Mucopolysaccharidoses / complications*
  • Mucopolysaccharidoses / etiology
  • Mucopolysaccharidoses / pathology
  • Nerve Compression Syndromes / diagnostic imaging
  • Nerve Compression Syndromes / etiology
  • Nerve Compression Syndromes / surgery
  • Neuroimaging / methods
  • Neurosurgical Procedures / adverse effects
  • Neurosurgical Procedures / methods*
  • Postoperative Complications / etiology
  • Postoperative Complications / prevention & control*
  • Spinal Cord Compression / diagnostic imaging
  • Spinal Cord Compression / etiology
  • Spinal Cord Compression / surgery
  • Treatment Outcome

Substances

  • Glycosaminoglycans