X-linked adrenoleukodystrophy

Case contributed by Dr Lana Pshtiwan


Focal convulsion.

Patient Data

Age: 7 years
Gender: Male

Bilateral symmetrical deep white matter periventricular hypo density involving both cerebrum and cerebellar hemispheres.


Bilateral symmetrical white matter abnormal signal involving peritrigonal parietal-occipital and splenium of the corpus callosum, inferior temporal, midbrain, and dentate nuclei, showing abnormal high T2W, FLAIR, low T1W and intense post contrast enhancement. There is no abnormal meningeal enhancement. No ventriculomegaly.

Case Discussion

In the above case, a classical MRI of the periventricular deep white matter with posterior-predominant pattern and involvement of the splenium of the corpus callosum and parietal white matter changes with this pattern of enhancement is consistent with X-linked adrenoleukodystrophy.

The diagnosis was confirmed with laboratory tests. 

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Case information

rID: 68929
Published: 22nd Jun 2019
Last edited: 18th Nov 2019
Inclusion in quiz mode: Included
Institution: The Arab Board Of Health Specializations

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