X-linked adrenoleukodystrophy

Case contributed by Dr Charlie Chia-Tsong Hsu


Learning difficulty at school. Visual and hearing impairments. Intermittent strabismus. Overall developmental regression.

Patient Data

Age: 6 years old
Gender: Male

MRI brain demonstrate symmetrical, confluent T1 hypointense and T2 hyperintense signal abnormality involving the peritrigonal parieto-occipital white matter with extension into the subcortical U-fibers. (Figure 1, 2 and 3)

In the craniocaudal direction signal abnormality is seen in the corticospinal tracts extending from the centrum semioavle to the level of the pyramids of the medulla (Figure 3 and Figure 4). Both auditory (Figure 5) and visuals (figure 6) pathways are also involved. 

The leading edge of the white matter signal abnormality demonstrate enhencement (Figure 7 and 8). No involvement of the cerebellum is evident. 

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Case information

rID: 30496
Published: 14th Aug 2014
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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