EEG, pattern-evoked potentials and nerve conduction velocity in a family with adrenoleucodystrophy.
In a family with 8 children one case of adrenoleucodystrophy (ALD), verified by autopsy, 2 cases with clinical signs of ALD and four other clinically healthy subjects with pathological ACTH tests were found. As an initial sign in the EEG, temporo-occipital slowing occurred. Further EEG studies showed spread of the primary local abnormalities, indicating diffuse brain dysfunction during progression of the disease. Terminal EEG flattening may be characteristic for late stages of the disease. No correlation could be established between lateralization, paroxysms and actual stage of the disease. Abnormal EEGs occurred not only in clinically and subclinically affected male patients, but also in a girl, who might be a carrier of ALD. Visual evoked potentials showed an increased latency of the P2 wave in the clinically, and in one subclinically, affected subjects. Motor nerve conduction velocity was reduced in only 2 patients. Antidromic sensory nerve conduction velocity of the median nerve was normal in all patients.
D000224:Addison Disease / Q000235:genetics* / Q000503:physiopathology; D000293:Adolescent; D000304:Adrenal Cortex Function Tests; D000328:Adult; D002540:Cerebral Cortex / Q000503:physiopathology*; D002648:Child; D002675:Child, Preschool; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics* / Q000503:physiopathology; D004569:Electroencephalography; D005071:Evoked Potentials; D005260:Female; D006801:Humans; D008297:Male; D009431:Neural Conduction; D010775:Photic Stimulation; D014796:Visual Perception