X-linked adrenoleukodystrophy presenting with positional downbeat nystagmus

作者：Kim Sang Hoon; Kim Sung Sik; Ha Hyeonuk; Lee Seung Han^*

来源：Neurology, 2016, 86(23): 2214-2215.

DOI：10.1212/WNL.0000000000002749

A 20-year-old man presented with dizziness and gait disturbance for approximately 2 months. Neurologic examination revealed spontaneous downbeat nystagmus (DBN), limb ataxia, and abnormal tandem gait (video on the Neurology (R) Web site at Neurology.org). Video-oculography showed augmented DBN during position change (figure 1). MRI revealed diffuse atrophy and signal changes in the brainstem and cerebellum (figure 2). The plasma levels of very long-chain fatty acids (C26:0 concentration, C24:0/C22:0 ratio, and C26:0/C22:0 ratio) were elevated. Subsequent genetic testing revealed a missense mutation in the ABCD1 gene. The olivopontocerebellar form of X-linked adrenoleukodystrophy should be considered a rare but possible diagnosis in young men with dizziness and DBN.(1,2</SUP)

• 出版日期2016-6-7