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Journal of Child Neurology
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Vanishing White Matter Disease: The First Reported Chinese Patient

Sheila S. N. Wong, MRCPCH (UK)

Department of Paediatrics and Adolescent Medicine, United Christian Hospital, snsheilawong{at}yahoo.com.hk

David C. K. Luk, FHKCPaed, FHKAM

Department of Paediatrics and Adolescent Medicine, United Christian Hospital

Virginia C. N. Wong, FRCP (Edinburgh), FRCP (London), FRCPCH

Department of Paediatrics and Adolescent Medicine, The University of Hong Kong, Queen Mary Hospital Hong Kong SAR

Gert C. Scheper, PhD

Department of Child Neurology VU University Medical Center, The Netherlands

Marjo S. van der Knaap, MD, PhD

Department of Child Neurology VU University Medical Center, The Netherlands

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.

Key Words: vanishing white matter disease • leukoencephalopathy • translation initiation factor EIF2B

Journal of Child Neurology, Vol. 23, No. 6, 710-714 (2008)
DOI: 10.1177/0883073808314154
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