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Volume 360:1792-1794 April 23, 2009 Number 17
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Mutations in a Thiamine-Transporter Gene and Wernicke's-like Encephalopathy

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To the Editor: We report on two previously healthy Japanese brothers with a newly discovered recessively inherited syndrome similar to Wernicke's encephalopathy that developed in the second decade of life; this syndrome was manifested clinically as thiamine-responsive diplopia and ptosis without serum thiamine deficiency. The patients had complex partial seizures resulting in status epilepticus. The administration of high-dose thiamine (up to 600 mg) improved the seizures within 24 hours, although the ophthalmoplegia, nystagmus, and ataxia continued for several weeks. There were no extrapyramidal features. Magnetic resonance imaging (MRI) of the brain showed high-intensity signals in the bilateral medial thalamus and . . . [Full Text of this Article]



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