Case contributed by Salman S. Albakheet
Diagnosis certain


History of seizures and visual disturbance.

Patient Data

Age: Child
Gender: Male

MRI Brain


There is evidence of bilateral symmetrical confluent low Tl signal and high T2 signal involving peritrigonal white matter, optic radiation as well as splenium and extending to involve the corticospinal tracts. The subcortical U-fiber white matter is spared.  The "leading edge" also demonstrates enhancement after Gadolinium injection. Additionally, there is bilateral symmetrical auditory pathways involvement at the level of brain stem (pons) with enhancement after contrast injection. 

Case Discussion

These MRI features are typical for X-linked adrenoleukodystrophy and the diagnosis of this case was confirmed.

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