Mucopolysaccharidosis (MPS): investigations
Evidence-based neurology checklist on mucopolysaccharidosis (mps): investigations: Magnetic resonance imaging (MRI): brain Macrocephaly with frontal bossing Hydrocephalus Prominent perivascular spaces Demyelination Myelopathy Syringomyelia Gliosis Cerebral atrophy Magnetic resonance imaging (MRI):…
Magnetic resonance imaging (MRI): brain
- Macrocephaly with frontal bossing
- Hydrocephalus
- Prominent perivascular spaces
- Demyelination
- Myelopathy
- Syringomyelia
- Gliosis
- Cerebral atrophy
Magnetic resonance imaging (MRI): spine
Enzyme assays
Genetic analysis
Other investigations
References
- Zafeiriou DI, Batzios SP. Brain and spinal MR imaging findings in mucopolysaccharidoses: a review. Am J Neuroradiol 2013; 34:5-13.
- 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.
- Kubaski F, de Oliveira Poswar F, Michelin-Tirelli K, et al. Diagnosis of mucopolysaccharidoses. Diagnostics (Basel) 2020; 10:172.
