Location of Periventricular Nodular Heterotopia Is Related to the Malformation Phenotype on MRI

Location of Periventricular Nodular Heterotopia Is Related to the Malformation Phenotype on MRI
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DOI:
10.3174/ajnr.a3312
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发表时间:
2013-04-01
影响因子:
3.5
通讯作者:
Barkovich, A. J.
Barkovich, A. J.
中科院分区:
医学2区
文献类型:
--
作者:
Gonzalez, G.;Vedolin, L.;Barkovich, A. J.

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背景和目的:脑室周围结节性异位是一种常见的皮质发育畸形,与许多临床综合征和许多不同的神经影像学表型相关。本研究的目的是确定特定的畸形表型是否与MR成像评估的PNH的位置、侧面或数量有关。材料与方法:回顾性分析200例既往诊断为PNH的患者的MR图像。PNH根据其沿脑室的位置(前、后或弥漫性)、侧面(单侧或双侧)和结节数量(10个)进行分类。分析大脑、脑干和小脑的异常情况。采用Fisher精确检验和chi(2)检验检验PNH位置与其他异常存在的关系。结果:后脑PNH与大脑皮质畸形、白质体积减少和中脑/后脑异常显著相关。弥漫性PNH与白质体积减少、胼胝体“异常”和大音的存在有关。单侧PNH与皮质畸形密切相关。结论:某些畸形复合物与特定部位的PNH相关:后发PNH伴大脑皮质和中脑/后脑畸形,弥漫性PNH伴胼胝体异常和大耳蜗。了解了这些关联,就可以对PNH患者的脑磁共振成像进行更有针对性的分析。此外,了解这些关联可能有助于指导研究,以阐明这些畸形复合体的原因。
BACKGROUND AND PURPOSE: Periventricular nodular heterotopia are common malformations of cortical development that are associated with many clinical syndromes and with many different neuroimaging phenotypes. The purpose of this study was to determine whether specific malformation phenotypes may be related to location, side, or number of PNH as assessed by MR imaging.MATERIALS AND METHODS: MR images of 200 patients previously diagnosed with PNH were retrospectively analyzed. PNH were classified according to their location along the ventricles (anterior, posterior, or diffuse), side (unilateral or bilateral), and number of nodules (10). The cerebrum, brain stem and cerebellum were analyzed to assess associated anomalies. Associations between PNH location and the presence of other anomalies were tested by using Fisher exact test and chi(2) test.RESULTS: Posterior PNH were significantly associated with malformations of the cerebral cortex, diminished white matter volume, and mid-/hindbrain anomalies. Diffuse PNH were associated with diminished white matter volume, callosal "anomalies," and the presence of megacisterna magna. Unilateral PNH were strongly associated with cortical malformations.CONCLUSIONS: Certain malformation complexes are associated with PNH in specific locations: posterior PNH with cerebral cortical and mid-/hindbrain malformations and diffuse PNH with callosal anomalies and megacisterna magna. Knowledge of these associations should allow more directed analyses of brain MR imaging in patients with PNH. In addition, knowledge of these associations may help to direct studies to elucidate the causes of these malformation complexes.