Adrenoleukodystrophy without adrenal insufficiency and its magnetic resonance imaging.
Fatty acids of plasma and erythrocyte membrane sphingomyelin were determined by gas chromatography-mass spectrometry in adrenoleukodystrophy (ALD) without adrenal insufficiency. Mass chromatogram tracing with the ion at m/z 143 [(CH2)6COOH3]+ showed increases of saturated very long chain fatty acids in plasma and erythrocyte membrane sphingomyelin in ALD. The C26:0/C22:0 ratios in plasma were 0.121, 0.057 and 0.007 in cases 1 and 2, and a control subject, respectively. The C26:0/C22:0 ratios in erythrocyte membrane sphingomyelin were 0.386, 0.211 and 0.093 in cases 1 and 2 and the control subject, respectively. The demyelinating process of ALD was clearly observed in both the inversion recovery 2100/500 and spin echo 2100/80 scans on magnetic resonance imaging. The magnetic resonance image in case 1 revealed widespread demyelinated lesions, involving almost the entire cerebrum and cerebellum, at 4 years after the onset, while that in case 2 revealed demyelinated lesions mainly limited to parieto-occipital areas at 1 year after the onset.
D000293:Adolescent; D000326:Adrenoleukodystrophy / Q000175:diagnosis*; D001921:Brain / Q000473:pathology*; D055598:Chemical Phenomena; D002621:Chemistry; D002648:Child; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000175:diagnosis*; D004910:Erythrocyte Membrane / Q000032:analysis; D005227:Fatty Acids / Q000097:blood; D006801:Humans; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008565:Membrane Proteins / Q000032:analysis; D013109:Sphingomyelins / Q000097:blood*
D005227:Fatty Acids; D008565:Membrane Proteins; D013109:Sphingomyelins; C017364:hexacosanoic acid; C007547:behenic acid