Mucopolysaccharidosis (MPS): investigations

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Mucopolysaccharidosis (MPS): investigations. Macrocephaly with frontal bossing, Hydrocephalus. Fully referenced neurology checklist.

Magnetic resonance imaging (MRI): brain

  • Macrocephaly with frontal bossing
  • Hydrocephalus
  • Prominent perivascular spaces
  • Demyelination
  • Myelopathy
  • Syringomyelia
  • Gliosis
  • Cerebral atrophy

Magnetic resonance imaging (MRI): spine

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Enzyme assays

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Genetic analysis

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Other investigations

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References

  1. Zafeiriou DI, Batzios SP. Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. Am J Neuroradiol 2013; 34:5-13.
  2. Rasalkar DD, Chu WC, Hui J, Chu CM, Paunipagar BK, Li CK. Pictorial review of mucopolysaccharidosis with emphasis on MRI features of brain and spine. Br J Radiol 2011; 84:469-477.
  3. Kubaski F, de Oliveira Poswar F, Michelin-Tirelli K, et al. Diagnosis of mucopolysaccharidoses. Diagnostics (Basel) 2020; 10:172.

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