Adrenoleucodystrophy: a study of four patients

Abstract

4 unrelated boys suffering from adrenoleucodystrophy (ALD) are reported. All presented with a cerebral degenerative disorder manifested by behaviour change, dementia, progressive visual loss and spasticity. 1 child showed an excess of skin pigmenation but no other clinical features of adrenal insufficiency were present. An ACTH stimulation test indicated adrenal insufficiency in 1 patient. In the 3 patients with a normal response to ACTH stimulation, 2 had elevated resting plasma ACTH levels, and the other showed typical inclusins in the cells of the adrenal cortex when examined by electron microscopy. Nuclear brain scans were abnormal in all 4 patients. 3 patients had a CAT scan and in all a diffuse decrease in density was shown throughout the cenebral white matter. 2 patients had a zone of contrast enhancement adjacent to the low density areas. In boys under the age of 10 years ALD is the commonest cerebral degenerative disease after subacute sclerosing panencephalitis.