Virupakshaiah Akash, Teixeira Sara Reis, Sotardi Susan, Liu Grant, Agarwal Sonika
Department of Pediatrics, Division of Neurology, The Children's Hospital of Philadelphia Division of Neurology, Philadelphia, USA.
Department of Radiology, Division of Neuroradiology, The Children's Hospital of Philadelphia, Philadelphia, USA.
Child Neurol Open. 2023 Mar 6;10:2329048X231157147. doi: 10.1177/2329048X231157147. eCollection 2023 Jan-Dec.
Callosal agenesis is a complex condition with disruption in the steps such as cellular proliferation, migration, axonal growth, guidance, or glial patterning at the midline. Agenesis of the corpus callosum (AgCC) is associated with diverse midline craniofacial malformations affecting the frontal-cranial and midface skeleton. Diagnosing midline abnormalities prenatally can be challenging, especially in twin pregnancies, due to poor resolution of skull base structures on fetal MRI, basal cephalocele could be mistaken for fluid in the nasopharynx, motion limitation, and fetal positioning. Our case highlights the importance of evaluation for other associated midline anomalies when there is callosal agenesis.
胼胝体发育不全是一种复杂的病症，在中线部位的细胞增殖、迁移、轴突生长、导向或胶质细胞模式形成等步骤中出现紊乱。胼胝体发育不全（AgCC）与多种影响额颅和中面部骨骼的中线颅面畸形相关。产前诊断中线异常可能具有挑战性，尤其是在双胎妊娠中，因为胎儿MRI上颅底结构的分辨率较差，基底脑膨出可能被误认为是鼻咽部的液体、运动受限和胎儿体位问题。我们的病例强调了在存在胼胝体发育不全时评估其他相关中线异常的重要性。
