Adrenoleukodystrophy in a patient with primary hypocorticism

• Anna R. Volkova
• Anna V. Lisker
• Elena N. Ostroukhova
• Galina V. Semikova
• Dygun Olga D.
• Valentina S. Mozgunova

Abstract

X-linked adrenoleukodystrophy (X-ALD) was first described by S. HaberfeLd, H. Spieler in 1910. X-ALD is a rare hereditary disease with X-linked recessive inheritance; its development is due to the different mutation variants of the ABCD1 gene (Xq28), which is responsible for the synthesis of the very long-chain fatty acid transfer protein (ALDP) into peroxisomes. The toxic effects of very long chain fatty acids on the nervous system and adrenal cortex leads to a characteristic combination of neurological symptoms and primary hypocorticism.

Depending on the age of manifestation and the clinical feature, there are several clinical forms of X-ALD. The diagnosis is established by the clinical features, the levels and ratios of various types of very long-chain fatty acids and genetic investigation.

The article gives an example of adrenomyeloneuropathy, the most frequent form of X-ALD in adults, which is accompanied by a complete clinical manifestation and primary hypogonadism. Progression of neurological deficit in the presented patient cannot be ruled out, which requires dynamic observation.

Keywords:adrenoleukodystrophy, hypocorticism, hypogonadism, neurological deficit

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