Progression of Endocrinological and Neurological Dysfunction in Adrenoleukodystrophy

摘要

In a boy suffering from adrenoleukodystrophy (ALD) the function of the adrenal cortex and pituitary gland was followed prospectively. At the onset of the disease an autonomic hyperfunction of the adrenal cortex was shown. Subsequently the secretion of Cortisol dropped to low levels despite high plasma levels of ACTH. The results suggest a primary disorder of the adrenal cortex in ALD, which up till now could only be postulated on anatomical evidence. With the use of computerized tomography and electroencephalography abnormalities characteristic for ALD were shown. The progression of the disease was followed using these noninvasive methods of examination.