Clinical features of adrenoleukodystrophy

Objective To study the clinical characteristics of adrenoleukodystrophy (ALD) and enhance the knowledge about ALD. Methods 25 patients diagnosed with ALD from 2008 to 2015 were retrospective analyzed. Results All the 25 cases were male. Their main clinical features were progressive auditory, visual, and intelligent deterioration, abnormal behaviors, dyschromodermia, or skin-turned-black. MRI scan demonstrated that the demyelinating lesions were located on the bilateral white matter of occipital lobe, posteriorparietal and temporal lobes. 5 cases had adrenocortical insufficiency. The VLCFAs measure showed that 5 cases got obvious increases in C22∶0, C24∶0, C26∶0, C26∶0/C22∶0, and C24∶0/C22∶0 and 1 case had ABCD1 gene mutation. Conclusions ALD is an inherited disease as an X-linked trait. ALD characterizes by children onset and progressive auditory, visual, and intelligent deterioration. The abnormalities of MRI scan, the levels of plasma VLCFAs, and ABCD1 gene mutation are crucial to the diagnosis. Key words: Adrenoleukodystrophy; Clinical feature