Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
UOC Genetica Medica, IRCCS Giannina Gaslini, Genoa, Italy.
Methods Mol Biol. 2024;2794:271-280. doi: 10.1007/978-1-0716-3810-1_22.
Malformations of cortical development (MCDs) are a diverse group of disorders that result from abnormal neuronal migration, proliferation, and differentiation during brain development. Head computed tomography (CT) has limited use in the diagnosis of MCDs and should be reserved for selected cases with specific indications or when magnetic resonance imaging is not available or contraindicated. CT can detect brain calcifications associated with MCDs, thus helping in the differential diagnosis between acquired and genetic MCDs or in the identification of different genetic patterns. Moreover, CT can provide high-resolution images of the skull and bones, thus identifying associated malformations, such as craniosynostosis, inner and middle ear malformations, and vertebral anomalies. In this chapter, we review the CT scan technique, data analysis, and indications in the investigation of MCDs.
脑皮层发育畸形(MCD)是一组由大脑发育过程中神经元迁移、增殖和分化异常引起的疾病。头部计算机断层扫描(CT)在 MCD 的诊断中应用有限,应保留给具有特定适应证的特定病例,或在磁共振成像不可用或禁忌时使用。CT 可检测与 MCD 相关的脑钙化,有助于鉴别获得性和遗传性 MCD,或识别不同的遗传模式。此外,CT 可以提供颅骨和骨骼的高分辨率图像,从而识别相关畸形,如颅缝早闭、中耳和内耳畸形以及脊柱异常。在本章中,我们回顾了 MCD 研究中的 CT 扫描技术、数据分析和适应证。