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Images in Neurology
March 2008

Rapid Exacerbation in an Elderly Case of Adult-Onset X-linked Adrenoleukodystrophy With Cerebral Corticospinal Tract Involvement

Arch Neurol. 2008;65(3):416. doi:10.1001/archneur.65.3.416

A 62-year-old man was referred to us because of a recent onset of dementia. He had been experiencing a progressive spastic paraparesis since he was aged 41 years. He kept working until he retired at age 61 years. His colleagues and family had not noticed his mental deterioration. After retirement, he spoke less and less and became forgetful. At referral, his spontaneity was decreased but he had no difficulty answering questions from a doctor. His volition progressively declined and swallowing disturbance appeared. Seven months after referral, he was admitted to our hospital because of an aspiration pneumonia. He uttered a word or two when urged. Obvious akinesia was present. His lower extremities were spastic. Bilateral forced grasping and sucking response were observed. He could write his name but the ability was lost within 2 months after admission. A contrast-enhanced magnetic resonance image showed white matter lesions in the bilateral frontal lobes with enhancement (Figure, E and F). A nerve conduction study revealed mild slowing of conduction velocity of peripheral nerves. Levels of very long-chain fatty acids were 2 to 3 times as high as normal upper limits. Sequencing of his ABCD1 gene (GenBank Z21876 and NM_000033) disclosed a deletion-insertion. A diagnosis of X-linked adrenoleukodystrophy was made.