Abstract

X linked adrenoleukodystrophy (ALD) is a genetically determined disorder that involves the nervous system white matter, axons, adrenal cortex and testes. The typical clinical manifestations are progressive psyehomotor regression, vision and/or auditory impairment and adrenal insufficiency. It has variants with widely diffirent outcomes, hampering clinical counseling and evaluation of therapies. Early diagnosis and treatment is essential for a better prognosis. While bone marrow transplantation is beneficial in patients with early cerebral involvement, diet ("Lorenzo's oil) therapy has been found preventive in genetically or biochemically proven subclinic cases. Biochemical findings prove the disease, but the progression can not be estimated. Here, a case in which the progression of the disease has been shown by MRI is presented