Presentation
Mental and motor developmental delay.
Patient Data
Age: 6 years
Gender: Male
From the case:
Mucopolysaccharidoses - cerebral manifestations
{"current_user":null,"step_through_annotations":true,"access":{"can_edit":false,"can_download":true,"can_toggle_annotations":true,"can_feature":false,"can_examine_pipeline_reports":false,"can_pin":false},"extraPropsURL":"/studies/83521/annotated_viewer_json?lang=us"}
- multiple dilated perivascular spaces at the cerebral subcortical and deep periventricular white matter and corpus callosum
- white matter patches of abnormal signal are seen at the subcortical and deep periventricular white matter eliciting high signal at T2 & FLAIR WI
- diffuse brain atrophic changes evident by dilated ventricular systems and subarachnoid spaces
- bilateral middle cranial fossa arachnoid cysts
- J shape appearance of the sella turcica.
Case Discussion
Mucopolysaccharidoses (MPS) has characteristic neuroimaging features which are best appreciated at MRI such as dilated perivascular spaces, white matter lesions, hydrocephalus, brain atrophy, skull and spine abnormalities.
X-ray exams of the hands and dorsolumbar spine of the patients confirmed features of mucopolysaccridosis such as pointing of the bases of the metacarpal bones and central beaking of the dorsolumbar vertebrae.
Unable to process the form. Check for errors and try again.