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1994•Archives of Disease in Childhood Fetal & NeonatalOpen access

A new peroxisomal disorder with fetal and neonatal adrenal insufficiency.

Christine Vanhole, Francis de Zegher, P Casaer, Hugo Devlieger, Ronald J.A. Wanders, Geertrui F. Vanhove, Jaak Jaeken

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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.

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What this paper is about

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.

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Available 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.

Key concepts: Adrenoleukodystrophy, Peroxisomal disorder, Peroxisome, Adrenal insufficiency, Fetus, Endocrinology, Internal medicine, Medicine

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