ARRESTED CEREBRAL ADRENOLEUKODYSTROPHY - A CLINICAL AND PROTON MAGNETIC-RESONANCE SPECTROSCOPY STUDY IN 3 PATIENTS

We report three unrelated boys with X-linked adrenoleukodystrophy with onset of typical neurological symptoms of cerebral adrenoleukodystrop hy between the age of 7 and 11 years, In contrast to the expected rapi d progression, these patients showed an apparent arrest of initial neu rological deterioration for subsequent periods of 5-12 years, Repeated neuroimaging revealed no progression of demyelination, Despite region al variability of demyelination, proton magnetic resonance spectroscop y revealed a specific metabolic pattern in all patients, with only mod erate reduction of N-acetylaspartate, normal or reduced choline-contai ning compounds, normal or enhanced myo-inositol and no detectable lact ate, which differs from findings in progressive cerebral adrenoleukody strophy which usually exhibits a severe reduction of N-acetylaspartate and marked increases of choline-containing compounds, myo-inositol, a nd lactate. The ability to identify this newly described subgroup of p atients with cerebral adrenoleukodystrophy is important for medical ad vice and planning of therapy.