Robbins Kyle, Arraj Patrick, Dengle Sanchez Lauren, Godiyal Nikhil, Veltkamp Daniel L, Pfeifer Cory M
University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA.
Department of Pediatrics, Division of Pediatric Neurology, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd, Dallas, TX 75390, USA.
Radiol Case Rep. 2020 Nov 6;16(1):116-118. doi: 10.1016/j.radcr.2020.10.035. eCollection 2021 Jan.
Infantile vanishing white matter disease is an uncommon cause of developmental delay and seizures in children. Presented here is a case of vanishing white matter disease diagnosed at 6 months of age. Imaging findings demonstrated widespread white matter abnormalities throughout the supratentorial and infratentorial brain. The diagnosis of infantile vanishing white matter disease was confirmed via molecular analysis which revealed a rare mutation in the gene responsible for this disorder.
婴儿型脑白质消失症是儿童发育迟缓及癫痫发作的一种罕见病因。本文介绍了一例6个月大时被诊断为脑白质消失症的病例。影像学检查结果显示幕上和幕下脑内广泛存在白质异常。通过分子分析确诊为婴儿型脑白质消失症，该分析揭示了导致这种疾病的基因存在罕见突变。
