What is the most common single protein or enzyme deficiency disease to present in childhood?
X-linked adrenoleukodystrophy
What is the earliest imaging finding of adrenoleukodystrophy?
Corpus callosum splenium hyperintensity on T2-weighted and FLAIR sequences.
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. An intermediate zone of active demyelination shows restricted diffusion.