Archives of disease in childhood
Publication date:
1994-07-01
Volume:
71
Pages:
F55 -
F56
DOI:
10.1136/fn.71.1.F55
Publisher:
British med journal publ group
Author:
Vanhole, Christine
de Zegher, Francis ; Casaer, Paul ; Devlieger, Hugo ; Wanders, RJ ; Vanhove, G ; Jaeken, Jacques
Keywords:
Adrenal Insufficiency, Adrenoleukodystrophy, Fatty Acids, Humans, Infant, Newborn, Liver, Male, Microbodies, zellweger, Science & Technology, Life Sciences & Biomedicine, Pediatrics, ADRENOLEUKODYSTROPHY, ZELLWEGER, 1114 Paediatrics and Reproductive Medicine, 3213 Paediatrics
Abstract:
A boy with a new type of adrenoleukodystrophy is described. This was characterised by fetal and neonatal adrenal insufficiency, a neurological picture as seen in neonatal adrenoleukodystrophy, but with a normal number of peroxisomes in the liver and a peroxisomal dysfunction limited to the very long chain fatty acids and pristanic acid.