X-linked adrenoleukodystrophy

Case contributed by Dr Lana Pshtiwan

Presentation

Focal convulsion.

Patient Data

Age: 7 years
Gender: Male
CT

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

MRI

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 T2, FLAIR, low T1 and intense enhancement, 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: 14th Aug 2019
Inclusion in quiz mode: Included
Institution: The Arab Board Of Health Specializations

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