X-linked adrenoleucodystrophy: diagnosis and progression quantification.

Abstract

Radiol Bras. 2014 Nov/Dez;47(6):VII–VIII Adrenoleukodystrophy (ALD) is a white matter disease whose bone marrow transplant (BMT) as a therapeutic option is allowed for early diagnosis. Because of the high sensitivity of magnetic resonance imaging (MRI) for the diagnosis of WM lesions, the radiologist is frequently asked to give his/her opinion on the differentiation between a case of hypoxia-related sequelae and evolutive lesions such as leukodystrophy. In general, the clinician can distinguish both groups using anamnesis and neurologic evaluation. However, not always the disease presentation is so clear, white or black, most frequently presenting with different shades of gray, with a very confusing history of loss of abilities, behavior disorders, questionable psychomotor involution and different degrees of disorders potentially attributable to psychiatric diseases acting as confounding factors. In such a situation, the opinion of the radiologist about a brain MRI study is critical for the clinical management. The typical presentation of X-linked ALD in association with adrenal insufficiency symptoms is relatively easy to be diagnosed by a radiologist with experience in central nervous system (CNS) diseases, which increases the responsibility of the professional. Recently, the relevance of the role played by diagnostic imaging was enhanced by good outcomes achieved with the treatment by BMT in early diagnosed cases. Thus, the reading of the excellent article published in the present issue of Radiologia Brasileira, approaching the utilization of diffusion tensor imaging and developed by researchers at Hospital das Clinicas of Universidade Federal do Parana, becomes even more interesting. ALD is a genetic disease classified in the group of peroxisomal disorders whose most frequent presentation is that of a recessive X-linked disease. Thus, women, although being carriers of the gene which fundamentally affects men, are uncommonly affected, in such cases presenting with a variant of the disease. Despite the existence of neonatal and adult-onset forms of the disease, classic childhood adrenoleukodystrophy is more frequent and severe. Such a disease presentation was made widely known by the movie “Lorenzo’s Oil” (USA, 1992), directed by George Miller, where it was brightly described with emphasis not only on the patient’s suffering but also on the repercussion of the progressive deterioration of the child on the family. Additionally, one should consider the current availability of access to information through the me-