Proton MR Spectroscopy of Childho

Adrenoleukodystrophy (ALD) is a disorder characterized by elevated levels of very long chain fatty acids in the plasma and a variable phenotype; the gene has been localized to Xq28 (1–5). There are several well-recognized forms: adult-onset adrenomyeloneuropathy, adrenal insufficiency in isolation, and childhood-onset cerebral adrenoleukodystrophy (COCALD). In patients with COCALD, the mean age of disease onset is 7 years, demyelination is rapid, and deterioration leading to death occurs over an average of 31⁄2 years. There is no laboratory test, including levels of very long chain fatty acids, that can distinguish among these three forms of the disease or that can indicate the degree of deterioration (1, 6). Advances in human genetics have not only resulted in the identification of the genetic ab-normalities associated with many neurodegen-erative diseases but have also offered hope for treatment. A dietary approach has been at-tempted (2). In COCALD patients, however this dietary treatment has had little impact on the progression of the disease (7, 8). Bone mar-row transplantation, on the other hand, has been successful in stopping the progression o demyelination and neurologic symptoms, pro-vided the disease is diagnosed and treated early (2, 9–12). Initial diagnosis of COCALD is made with magnetic resonance (MR) imaging together with evidence of neuropsychological and clini-cal deterioration. About 80 % of children with COCALD show increased signal on T2