 |  |  |
| T1 axial pre gad | PDW axial | T2 axial |
Diagnosis: Adrenoleukodystrophy
Adrenoleukodystrophy is an x-linked disease seen only in boys presenting between the ages of 5 and 10. It is a disorder of fatty acid oxidation in which cholesterol esters accumulate in the gray and white matter and the adrenal cortex. Patients present with loss of vision or hearing, behavior problems, rapid decline in mentation and death. They may have adrenal insufficiency and increased skin pigmentation due to elevated ACTH. They have symmetric low density lesions in the occipital white matter on CT with involvement of the splenium of the corpus callosum. The margins of the low attenuation may enhance. 10% have calcifications in the low attenuation areas. Atypical cases may have asymmetric or frontal lobe involvement. These areas which are hypodense on CT have increased T2 signal on MR and may enhance at the margins. Symmetrically increased T2 signal may also be present along the corticospinal tracts. Although the finding of increased signal in the periatrial white matter is characteristic of ALD it is reasonable to consider multiple sclerosis. MS tends to be patchy and perpendicular to the ventricles. This patient has a brother who is diagnosed with ALD. Related Cases
