MRI of the brain performed at the age of 28, demonstrating evidence of a hypomyelinating leukodystrophy. Compared to grey matter structures, there is diffuse hyperintensity of the white matter on T2 weighted images (a, b, c), with hyperintense signal on T1 weighted images (d), consistent with hypomyelination. As previously reported, there is characteristic relative preservation of myelination within the following structures: optic radiations (long thin white arrow; a, b), anterolateral nucleus of the thalamus (thick white arrow; a, b), globus pallidus (short thin white arrow; a, b), posterior corpus callosum (white arrow head; b), corticospinal tracts (white arrow; c), and the dentate nucleus (white arrow; e). Sagittal T1 weighted imaging (f) demonstrates thinning of the corpus callosum and mild cerebellar atrophy.Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature.
Billington E, Bernard G, Gibson W, Corenblum B - Case reports in endocrinology (2015). Not Altered. CC.
Leukodystrophies are diseases affect myelin in the brain and spine.
Examples of leukodystrophies include:
- Adrenoleukodystrophy
- Krabbe disease
- Metachromatic leukodystrophy