Adrenoleukodystrophy--its diverse CT appearances and an evolutive or phenotypic variant: the leukodystrophy without adrenal insufficiency.

The CT appearance of adrenoleukodystrophy is discussed on the basis of 16 personal observations and a review of the literature. CT appearance was typical in 10 of the 16 cases, atypical but suggestive of adrenoleukodystrophy in four cases, and misleading in two cases. Atypical CT presentations were most often observed at an early phase of the disease and included unilateral lesions or lesions without opacification at the periphery of the edemalike areas after contrast enhancement. In three cases, neurological signs, CT scans, and conjunctival and skin biopsies were highly suggestive of adrenoleukodystrophy, but there was no adrenal insufficiency. These cases may correspond to an evolutive or phenotypic variant of adrenoleukodystrophy.