Presentation
Visual impairments with learning difficulty at school.
Patient Data
Age: 12 years
Gender: Male
From the case:
X-linked adrenoleukodystrophy
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Symmetrical decreased T1 and increased T2 and FLAIR signal of the deep periventricular white matter extending to the subcortical U-fibers with posterior peritrigonal predominant pattern with involvement of the corpus callosum (mainly the splenium) and corticospinal tracts. The post contrast sequence shows enhancement in the most periphery of the peritrigonal lesions.
The MR spectroscopy shows a decrease in the NAA peak and an elevation in the lactate peak.
Case Discussion
The clinical presentation and the MRI features are most consistent with X-linked adrenoleukodystrophy.
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