一个伴有顶骨孔的家系中由ALX4同源盒基因突变所决定的皮质和血管发育畸形。
Malformation of cortical and vascular development in one family with parietal foramina determined by an ALX4 homeobox gene mutation.
作者信息
Valente Marcelo, Valente Kette D, Sugayama Sofia S M, Kim Chong Ae
机构信息
Pediatric Neuroradiology Division, University of São Paulo School of Medicine, São Paulo, Brazil.
出版信息
AJNR Am J Neuroradiol. 2004 Nov-Dec;25(10):1836-9.
Abstract
Vascular and cortical anomalies have been found in a family with parietal foramina type 2 (PFM2), which is determined by the ALX4 gene. It is believed that ALX4 has a bone-restricted expression. We report a case of PFM with age-related size variation in a 4-year-old boy, as well as in his mother, aunt and grandfather. MR imaging of the child demonstrates prominent malformations of cortical (polymicrogyric cortex with an unusual infolding pattern) and vascular development (persistence median prosencephalic vein), associated with high tentorial incisure periatrial white matter changes.
摘要
在一个患有2型顶骨孔症（PFM2）的家族中发现了血管和皮质异常，该病症由ALX4基因决定。据信，ALX4具有骨限制性表达。我们报告了一例4岁男孩及其母亲、阿姨和祖父患有与年龄相关大小变化的PFM病例。该儿童的磁共振成像显示皮质（具有异常折叠模式的多小脑回皮质）和血管发育（永存正中前脑静脉）有明显畸形，并伴有幕切迹周围心房白质改变。
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