Adrenoleukodystrophy in a Chinese boy

Abstract

We report the first Chinese boy with adrenoleukodystrophy (ALD) who presented with hyperpigmentation, behavioral change and demyelination shown in magnetic resonance imaging of the brain. ALD was confirmed by the elevation of very long chain fatty acid in the serum and biochemical evidence of adrenal insufficiency. A trial of special diet with restriction of very long chain fatty acid and addition of glyceryl trierucate/glycerol trioleate oil (GTEO or Lorenzo's oil) failed to prevent clinical deterioration. The child had progressive visual loss and spastic tetraparesis despite dietary manipulation, adrenal steroid replacement and intravenous gammaglobulin treatment.