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J Child Neurol. 2008 Jun;23(6):710-4. doi: 10.1177/0883073808314154.

Vanishing white matter disease: the first reported chinese patient.

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  • 1Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Kowloon, Hong Kong SAR, China. snsheilawong@yahoo.com.hk

Abstract

Vanishing white matter disease is a rare neurological disease. The majority of patients reported are Caucasian individuals. We describe the first Chinese patient with typical clinical and radiological features genetically confirmed to have vanishing white matter disease for a mutation in EIF2B4, followed by a brief review of the disease.

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