Case contributed by Dr Lemuel Marquez Narcise


Change in behavior, and learning difficulty at school

Patient Data

Age: 13
Gender: Male


Axial MRI sequences show symmetrical peritrigonal white matter lesion which is hypointense on T1-weighted imaging and hyperintense on T2WI/FLAIR sequences, which also involves the splenium of the corpus callosum, as well as the cerebral peduncles and cerebellar white matter.

Case Discussion

Adrenoleukodytrophy is an inherited peroxisomal disorder, resulting in accumulation of very long chain fatty acids (VLCFAs) in the white matter which causes severe inflammatory demyelination.

X-linked adrenoleukodystrophy is the most common single protein or enzyme deficiency disease to present in childhood, almost seen exclusively in boys age 5-12 years, and has a posterior-predominant pattern.

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Case information

rID: 46462
Published: 5th Jul 2016
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included
Excluded from licensing

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