X-linked adrenoleukodystrophy:an analysis of 12 cases
- VernacularTitle:X-连锁型肾上腺脑白质营养不良12例病例分析
- Author:
Jian ZHANG
;
Jun CHEN
;
Qiming XUE
- Publication Type:Journal Article
- Keywords:
Adrenoleukodystrophy;
Fatty acids
- From:
Chinese Journal of Neurology
2000;0(05):-
- CountryChina
- Language:Chinese
-
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 26:0 ) and the ratio of C 26:0 to docosanoic acid (C 22:0 ) 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.
