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.

A 12-year-old Japanese girl and her mother showed insulin-resistant diabetes mellitus which was confmed by the response to an oral glucose load in both patients and by the small decrease in blood glucose after intravenous insulin in the daughter. Anti-insulin antibodies and anti-insulin-receptor antibodies were not detected in either patient. The circulating erythrocytes were found to have reduced insulin binding capacity, which, to judge from IDSo, was probably caused by decreased binding affhty of insulin receptors.The patients did not have acanthosis nigricans or signs of androgenization such as hirsutism, dysmenorrhea or polycystic ovaries. Endocrinological studies in the daughter showed elevated basal serum levels of luteinizing hormone (LH), dehydroepiandrosterone, testosterone and estrone, and an exaggerated LH response to LH-RH. It is possible that hyperinsulinemia caused by insulin resistance contributed to the increased secretion of LH and androgens, but it was unclear why signs of androgenization were absent in spite of increased secretion of LH and androgens.(ActaPaediatrJpn 1988; 30: 608 -614)

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