A Case of Adult-onset Adrenoleukodystrophy with Frontal Lobe Dysfunction: A Novel Point Mutation in the ABCD1 Gene

作者：Inoue Shinichiro; Terada Seishi^*; Matsumoto Tadashi; Ujike Hiroshi; Uchitomi Yosuke

来源：Internal Medicine, 2012, 51(11): 1403-1406.

DOI：10.2169/internalmedicine.51.6899

• adrenoleukodystrophy
• diffusion-weighted MRI
• frontal lobe dysfunction
• MR spectroscopy
• single photon emission CT (SPECT)

We report the case of a 48-year-old man with adult-onset adrenoleukodystrophy (ALD) who developed dementia with subacute onset. He was abulic, indifferent to his surroundings, and without insight with regards to his own disease. An elevated plasma very long chain fatty acid level and a novel point mutation IVS3+2t%26gt; g in the ABCD1 gene confirmed the diagnosis of ALD. Diffusion-weighted MRI revealed a high intensity area in the white matter of the frontal lobes. Severe brain hypoperfusion in the frontal lobes was revealed. We believe that this is a rare case of adult-onset adrenoleukodystrophy with predominant frontal lobe dysfunction.

• 出版日期2012