Urogenital Imaging

Adrenoleukodystrophy

(ALD) an X-linked demyelinating disorder affecting about 1 in 20,000 males. It was previously known as Schilder's disease. It is a peroxisomal disorder, resulting in hyperpigmentation, adrenocortical insufficiency, elevated ACTH, and accumulation of very long chain fatty acids. Clinically it is characterized by impaired mental intellect, behavioural problems, cortical blindness and deafness, ataxia, spasticity and motor deficits. Onset is usually before 10 years of age, with rapid progression to death over 23 years. Pathologically, adrenoleukodystrophy is characterized by specific diagnostic inclusion bodies in cerebral macrophages Schwann cells, adrenocortical cells and Leydig cells of the testis. The inclusion bodies are seen at electron microscopy, and consist of dense long thin leaflets enclosing an electron-lucent space. Cross-sectional imaging of the adrenals is usually unremarkable. Also, see adrenomyeloneuropathy

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