Szewka Aimee J, Walsh Laurence E, Boaz Joel C, Carvalho Karen S, Golomb Meredith R
Division of Pediatric Neurology, Department of Neurology, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA.
Pediatr Neurol. 2006 Jun;34(6):481-5. doi: 10.1016/j.pediatrneurol.2005.09.008.
This report presents three families with Chiari malformation type I that became symptomatic during childhood: a mother and son; a set of monozygotic twins; and two half-siblings and their two maternal cousins. These children presented with various symptoms, including headache, stiff neck, and swallowing difficulty. A review of the relevant literature is presented, with an emphasis on familial examples and proposed inheritance. Less common presentations of Chiari malformation type I are discussed, as well as the possible pathogenesis of Chiari malformation type I and associated syringomyelia.
本报告介绍了三例I型Chiari畸形在儿童期出现症状的家族病例：一对母子；一对单卵双胞胎；以及两个同父异母的兄弟姐妹和他们的两个同母异父的表亲。这些儿童出现了各种症状，包括头痛、颈部僵硬和吞咽困难。本文对相关文献进行了综述，重点关注家族病例及推测的遗传方式。文中讨论了I型Chiari畸形较罕见的表现形式，以及I型Chiari畸形和相关脊髓空洞症可能的发病机制。
