Adult cerebral adrenoleukodystrophy and Addison's disease in a female carrier.
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.
Department of Neurology, Chinese PLA General Hospital, Beijing, China.
Xiaoyan
X
Chen
Department of Radiology, Chinese PLA General Hospital, Beijing, China.
Zhiye
Z
Chen
Department of Neurology, Chinese PLA General Hospital, Beijing, China.
Dehui
D
Huang
Department of Neurology, Chinese PLA General Hospital, Beijing, China.
Xiaofeng
X
Liu
Department of Pathology, Chinese PLA General Hospital, Beijing, China.
Qiuping
Q
Gui
Department of Neurology, Chinese PLA General Hospital, No. 28, Fuxing Road, Beijing 100853, China. Electronic address: yushengyuan301@163.com.
Shengyuan
S
Yu
D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000224:Addison Disease / Q000235:genetics; D000311:Adrenal Glands / Q000473:pathology; D000309:Adrenal Insufficiency / Q000235:genetics; D000326:Adrenoleukodystrophy / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D000328:Adult; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D002681:China; D003066:Coenzyme A Ligases / Q000097:blood; D003704:Dementia / Q000235:genetics; D017809:Fatal Outcome; D005227:Fatty Acids / Q000097:blood; D005260:Female; D006801:Humans; D000075262:Hypoadrenocorticism, Familial; D020125:Mutation, Missense; D049268:Positron-Emission Tomography; D000098859:Long-Chain-Fatty-Acid-CoA Ligase
C115572:ABCD1 protein, human; D000074063:ATP Binding Cassette Transporter, Subfamily D, Member 1; D018528:ATP-Binding Cassette Transporters; D005227:Fatty Acids; D003066:Coenzyme A Ligases; D000098859:Long-Chain-Fatty-Acid-CoA Ligase
Addison's disease; Adrenoleukodystrophy; Dementia; Female carrier