Department of Neurology, Medical Center, Stanford University School of Medicine, 300 Pasteur Drive, Stanford, CA 94305-5235, USA.
AJNR Am J Neuroradiol. 2010 Oct;31(9):1596-601. doi: 10.3174/ajnr.A2123. Epub 2010 May 20.
HPE is a congenital brain malformation characterized by failure of the prosencephalon to divide into 2 hemispheres. We have identified 7 patients who have a mild subtype of HPE in which the midline fusion was restricted to the septal region or preoptic region of the telencephalon. This subtype, which we call septopreoptic HPE, falls in the spectrum of lobar HPE, but lacks significant frontal neocortical fusion seen in lobar HPE. Other imaging characteristics include thickened or dysplastic fornix, absent or hypoplastic anterior CC, and single unpaired ACA. The SP was fully formed in 4, partially formed in 2, and absent in 1. Mild midline craniofacial malformation, such as SMMCI and CNPAS were found in 86% and 71%, respectively. Patients outside of infancy often manifested language delay, learning disabilities, or behavioral disturbances, while motor function was relatively spared.
HPE 是一种先天性脑畸形，其特征是前脑未能分裂成两个半球。我们已经确定了 7 名患者，他们患有轻度 HPE 亚型，其中中线融合仅限于端脑的隔区或视前区。我们将这种亚型称为隔前 HPE，它属于脑叶 HPE 谱系，但缺乏脑叶 HPE 中所见的显著额新皮质融合。其他影像学特征包括穹窿增厚或发育不良、前连合缺失或发育不良以及单支未配对 ACA。SP 在 4 例中完全形成，在 2 例中部分形成，在 1 例中缺失。发现 86%和 71%的患者存在轻度中线颅面畸形，如 SMMCI 和 CNPAS。婴儿期以外的患者常表现为语言延迟、学习障碍或行为障碍，而运动功能相对不受影响。
