X-linked adrenoleukodystrophy:an analysis of 12 cases / 中华神经科杂志

ABSTRACT

Objective To study the clinical characteristics by using CT, MRI and biochemistry test on the X linked adrenoleukodystrophy (X ALD) Methods The clinical,neuro imaging and determinations of plasma very long chain fatty acids (VLCFAs) of 12 cases with X ALD were analysed Results The main clinical features consisted of the childhood onset,progressive auditory, visual and/or intelligent impairment, behavioural changes,epileptic seizures and melanodermia. CT or MRI scans demonstrated that the demyelinating lesions were located on the bilateral white matter in occipital,posterior parietal and temporal lobes.The levels of hexacosanoic acid (C 260 ) and the ratio of C 260 to docosanoic acid (C 220 ) were increased. Conclusions ALD is an inherited disease as an X linked trait.The childhood X ALD is characteristiced by progressive auditory, visual and intelligent deterioration.The abnormalities of CT or MRI scan and the levels of the plasma VLCFAs are crucial to the diagnosis of X ALD.