Purpose: To describe the unusual appearance of adrenoleukodystrophy (ALD) in MR imaging.
Material and methods: An analysis was made of MR findings, histopathology and clinical course in the cases of two brothers with ALD.
Results: The older brother presented with frontal contrast-enhanced lesions, including a cyst. These were initially misinterpreted as a tumour at both radiology and pathology. The correct diagnosis was made after the discovery of very-long-chain fatty acids in the blood. The younger brother presented initially with involvement of various segments of the corticospinal tract.
Conclusion: It is important that the radiologist be aware of the variants of ALD in MR imaging so as to avoid diagnostic mistakes.