18q syndrome

Case contributed by Assoc Prof Frank Gaillard

Presentation

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

Patient Data

Age: 11 years
Gender: Male
MRI

Selected MRI images demonstrate abnormal white matter, particularly posteriorly and in the periventricular region. It is characterized 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

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Case information

rID: 8350
Published: 24th Jan 2010
Last edited: 25th Apr 2020
Inclusion in quiz mode: Included