Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum.
Eur J Paediatr Neurol
; 18(2): 211-7, 2014 Mar.
Article
em En
| MEDLINE
| ID: mdl-24423630
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cerebelo
/
Mucopolissacaridose II
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Mucopolissacaridose I
Tipo de estudo:
Diagnostic_studies
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Observational_studies
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Qualitative_research
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Infant
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Male
Idioma:
En
Revista:
Eur J Paediatr Neurol
Assunto da revista:
NEUROLOGIA
/
PEDIATRIA
Ano de publicação:
2014
Tipo de documento:
Article
País de publicação:
ENGLAND
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ESCOCIA
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GB
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GREAT BRITAIN
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INGLATERRA
/
REINO UNIDO
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SCOTLAND
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UK
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UNITED KINGDOM