A case of Jacobsen syndrome with multifocal white matter lesions

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• 作者：Fang Yu^a ; ^{yuf@uthscsa.edu" class="auth_mail" title="E-mail the corresponding author} ; John E. Carter^b ; Carlos Bazan III^c
• 关键词：Jacobsen syndrome ; MRI ; White matter disease ; Pediatric neuroradiology
• 刊名：Clinical Imaging
• 出版年：2016
• 出版时间：July-August 2016
• 年：2016
• 卷：40
• 期：4
• 页码：705-706
• 全文大小：329 K

文摘

Jacobsen syndrome is a rare disorder caused by partial deletions of the long arm of chromosome 11. The phenotype is variable with involvement of multiple organ systems, resulting in congenital heart defects, blood dyscrasias, and impaired growth. We describe a case of a 30-year-old man with multiple ophthalmic manifestations and brain magnetic resonance imaging (MRI) that was remarkable for multiple T2-hyperintense subcortical white matter lesions. It is important to be aware that patients with Jacobsen syndrome may have nonspecific white changes seen on MRI.