This site is targeted at medical and radiology professionals, contains user contributed content, and material that may be confusing to a lay audience. Use of this site implies acceptance of our Terms of Use.

18q syndrome

Case contributed by: Dr Frank Gaillard

Presentation:

11 year old boy with developmental delay and new onset seizures.

Patient Data:

Age: 11 years
Gender: Male
Modality: MRI

Case Discussion:

Selected MRI images demonstrate abnormal white matter, particularly posteriorly and in the periventricular region. It is characterised by bilateral symmetric deep white matter hyperintensity on T2 weighted images, with associated involvement of the subcortical white matter, which results in poor grey-white matter differentiation on T2 weighted images. 

MRS demonstrates elevation of choline (Cho). Alpha-glutamate peak is not visible. 

Features are consistent with subsequently established 18q syndrome

Updating… Please wait.
Loadinganimation

 Details successfully updated.

Error Unable to process the form. Check for errors and try again.

 Thank you for updating your details.