脑白质消失症：首例报道的中国患者。

Vanishing white matter disease: the first reported chinese patient.

作者信息

Wong Sheila S N, Luk David C K, Wong Virginia C N, Scheper Gert C, van der Knaap Marjo S

机构信息

Department of Paediatrics and Adolescent Medicine, United Christian Hospital, Kowloon, Hong Kong SAR, China.

出版信息

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

DOI:10.1177/0883073808314154

PMID:18539998

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.

摘要

消失性白质病是一种罕见的神经系统疾病。报告的大多数患者为白种人。我们描述了首例具有典型临床和影像学特征且经基因证实因EIF2B4基因突变而患有消失性白质病的中国患者，随后对该疾病进行简要综述。