کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
2816461 | 1159935 | 2014 | 4 صفحه PDF | دانلود رایگان |
• We described a rare case of cerebral ALD of an adult female carrier.
• She had rapidly progressive dementia and death with white matter encephalopathy.
• She had adrenal insufficiency, adrenal hyperplasia and atypical MRI presentation.
• There's no family history.
• ALD should be differentiated in women with progressive white matter encephalopathy.
We described a 38-year-old woman of rapidly progressive dementia with white matter encephalopathy and death. She had Addison's disease but the adrenal glands were hyperplastic. Brain magnetic resonance imaging revealed diffuse white matter lesion predominantly in the frontal lobe with band-like contrast enhancement. l-Methyl-11C-methionine positron emission tomography revealed accumulation of tracer in bilateral frontal lobes. Stereotactic biopsy demonstrated demyelination changes. A number of urinary organic acids were elevated. Adrenoleukodystrophy was diagnosed by elevated plasma very long chain fatty acid and ABCD1 gene mutation (C1544C/T). Adrenoleukodystrophy should be considered as a differential diagnosis in women with rapidly progressive white matter encephalopathy.
Journal: Gene - Volume 544, Issue 2, 10 July 2014, Pages 248–251