Mucopolysaccharidoses type I and II: New neuroimaging findings in the cerebellum

Eman Alqahtani, Thierry A G M Huisman, Eugen Boltshauser, Ianina Scheer, Tayfun Güngör, Aylin Tekes, Gustavo H. Maegawa, Andrea Poretti

Research output: Contribution to journalArticle

Abstract

Background The neuroimaging literature on mucopolysaccharidoses (MPS) is focusing mostly on supratentorial findings. Our study aims to extend the spectrum of neuroimaging findings in patients with MPS focusing on the cerebellum. Methods Twelve patients were included (7 MPS type I and 5 MPS type II). The median age at last MRI was 9.9 years (mean age 10.1 years, range 1.8-28.8 years). All available brain MR images were retrospectively evaluated for infratentorial and supratentorial abnormalities with semiquantitative analysis and qualitative evaluation. Results Infratentorial findings included enlarged perivascular spaces (PVS) in the cerebellum in 7/12, mega cisterna magna in 3/12 and macrocerebellum in 2/12 patients. Enlarged cerebellar PVS developed later than those in the supratentorial brain and showed mild changes in size over time. The macrocerebellum developed progressively and seems to be caused by a thickening of the cortical cerebellar gray matter. Enlarged PVS in the brain stem were found in 10/12 patients. Supratentorial findings included enlarged PVS in all patients. Ventriculomegaly and white matter signal abnormalities were noted in 8/12, cerebral atrophy in 7/12 patients. Conclusion Involvement of the posterior fossa structures in MPS I and II is not uncommon. Our study revealed two neuroimaging findings that have not been previously described in MPS: enlarged PVS in the cerebellum and a macrocerebellum. The pathogenesis and clinical significance of these new findings remain unclear and should be assessed in a larger cohort of patients.

Original languageEnglish (US)
Pages (from-to)211-217
Number of pages7
JournalEuropean Journal of Paediatric Neurology
Volume18
Issue number2
DOIs
StatePublished - 2014

Fingerprint

Mucopolysaccharidosis II
Mucopolysaccharidosis I
Neuroimaging
Cerebellum
Mucopolysaccharidoses
Cisterna Magna
Brain
Brain Stem
Atrophy

Keywords

  • Cerebellum
  • Macrocerebellum
  • Mucopolysaccharidoses
  • Neuroimaging
  • Perivascular spaces
  • Posterior fossa

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Alqahtani, E., Huisman, T. A. G. M., Boltshauser, E., Scheer, I., Güngör, T., Tekes, A., ... Poretti, A. (2014). Mucopolysaccharidoses type I and II: New neuroimaging findings in the cerebellum. European Journal of Paediatric Neurology, 18(2), 211-217. https://doi.org/10.1016/j.ejpn.2013.11.014

Mucopolysaccharidoses type I and II : New neuroimaging findings in the cerebellum. / Alqahtani, Eman; Huisman, Thierry A G M; Boltshauser, Eugen; Scheer, Ianina; Güngör, Tayfun; Tekes, Aylin; Maegawa, Gustavo H.; Poretti, Andrea.

In: European Journal of Paediatric Neurology, Vol. 18, No. 2, 2014, p. 211-217.

Research output: Contribution to journalArticle

Alqahtani, E, Huisman, TAGM, Boltshauser, E, Scheer, I, Güngör, T, Tekes, A, Maegawa, GH & Poretti, A 2014, 'Mucopolysaccharidoses type I and II: New neuroimaging findings in the cerebellum', European Journal of Paediatric Neurology, vol. 18, no. 2, pp. 211-217. https://doi.org/10.1016/j.ejpn.2013.11.014
Alqahtani, Eman ; Huisman, Thierry A G M ; Boltshauser, Eugen ; Scheer, Ianina ; Güngör, Tayfun ; Tekes, Aylin ; Maegawa, Gustavo H. ; Poretti, Andrea. / Mucopolysaccharidoses type I and II : New neuroimaging findings in the cerebellum. In: European Journal of Paediatric Neurology. 2014 ; Vol. 18, No. 2. pp. 211-217.
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abstract = "Background The neuroimaging literature on mucopolysaccharidoses (MPS) is focusing mostly on supratentorial findings. Our study aims to extend the spectrum of neuroimaging findings in patients with MPS focusing on the cerebellum. Methods Twelve patients were included (7 MPS type I and 5 MPS type II). The median age at last MRI was 9.9 years (mean age 10.1 years, range 1.8-28.8 years). All available brain MR images were retrospectively evaluated for infratentorial and supratentorial abnormalities with semiquantitative analysis and qualitative evaluation. Results Infratentorial findings included enlarged perivascular spaces (PVS) in the cerebellum in 7/12, mega cisterna magna in 3/12 and macrocerebellum in 2/12 patients. Enlarged cerebellar PVS developed later than those in the supratentorial brain and showed mild changes in size over time. The macrocerebellum developed progressively and seems to be caused by a thickening of the cortical cerebellar gray matter. Enlarged PVS in the brain stem were found in 10/12 patients. Supratentorial findings included enlarged PVS in all patients. Ventriculomegaly and white matter signal abnormalities were noted in 8/12, cerebral atrophy in 7/12 patients. Conclusion Involvement of the posterior fossa structures in MPS I and II is not uncommon. Our study revealed two neuroimaging findings that have not been previously described in MPS: enlarged PVS in the cerebellum and a macrocerebellum. The pathogenesis and clinical significance of these new findings remain unclear and should be assessed in a larger cohort of patients.",
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AU - Güngör, Tayfun

AU - Tekes, Aylin

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AB - Background The neuroimaging literature on mucopolysaccharidoses (MPS) is focusing mostly on supratentorial findings. Our study aims to extend the spectrum of neuroimaging findings in patients with MPS focusing on the cerebellum. Methods Twelve patients were included (7 MPS type I and 5 MPS type II). The median age at last MRI was 9.9 years (mean age 10.1 years, range 1.8-28.8 years). All available brain MR images were retrospectively evaluated for infratentorial and supratentorial abnormalities with semiquantitative analysis and qualitative evaluation. Results Infratentorial findings included enlarged perivascular spaces (PVS) in the cerebellum in 7/12, mega cisterna magna in 3/12 and macrocerebellum in 2/12 patients. Enlarged cerebellar PVS developed later than those in the supratentorial brain and showed mild changes in size over time. The macrocerebellum developed progressively and seems to be caused by a thickening of the cortical cerebellar gray matter. Enlarged PVS in the brain stem were found in 10/12 patients. Supratentorial findings included enlarged PVS in all patients. Ventriculomegaly and white matter signal abnormalities were noted in 8/12, cerebral atrophy in 7/12 patients. Conclusion Involvement of the posterior fossa structures in MPS I and II is not uncommon. Our study revealed two neuroimaging findings that have not been previously described in MPS: enlarged PVS in the cerebellum and a macrocerebellum. The pathogenesis and clinical significance of these new findings remain unclear and should be assessed in a larger cohort of patients.

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