18q syndrome

Case contributed by A.Prof Frank Gaillard

Presentation

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

Patient Data

Age: 11 years
Gender: Male
Modality: MRI

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

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Case Information

rID: 8350
Diagnostic certainty: Almost Certain
Tag: syndrome
Inclusion in quiz mode: Included

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