Presentation
Mental retardation.
Patient Data
Age: 10 years
Gender: Male
From the case:
Mucopolysaccharidosis - cerebral manifestations
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- multiple dilated perivascular spaces at the cerebral subcortical and deep periventricular white matter, predominantly at the peritrigonal regions and corpus callosum
- white matter patches of abnormal signal are seen at the deep periventricular peritrigonal white matter and centrum semiovale eliciting high signal at T2 & FLAIR WI
- diffuse brain atrophic changes
- ventriculomegaly
- bilateral middle cranial fossa arachnoid cysts
- macrocephaly with skull thickening and J shape appearance of the sella turcica.
Case Discussion
This is a clinically known case of Mucopolysaccharidoses (MPS).
Mucopolysaccharidoses (MPS) have characteristic neuroimaging features which are best appreciated at MRI such as dilated perivascular spaces, white matter lesions, hydrocephalus, brain atrophy, skull and spine abnormalities.
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