Arrested cerebral adrenoleukodystrophy: A clinical and proton magnetic resonance spectroscopy study in three patients

We report three unrelated boys with X-linked adrenoleukodystrophy with onset of typical neurological symptoms of cerebral adrenoleukodystrophy between the age of 7 and 11 years. In contrast to the expected rapid progression, these patients showed an apparent arrest of initial neurological deterioration for subsequent periods of 5-12 years. Repeated neuroimaging revealed no progression of demyelination. Despite regional variability of demyelination, proton magnetic resonance spectroscopy revealed a specific metabolic pattern in all patients, with only moderate reduction of N- acetylaspartate, normal or reduced choline-containing compounds, normal or enhanced myo-inositol and no detectable lactate, which differs from findings in progressive cerebral adrenoleukodystrophy which usually exhibits a severe reduction of N-acetylaspartate and marked increases of choline-containing compounds, myo-inositol, and lactate. The ability to identify this newly described subgroup of patients with cerebral adrenoleukodystrophy is important for medical advice and planning of therapy.