Department of Neurosurgery, University of Virginia School of Medicine, Charlottesville, VA 22908, United States.
Department of Neuroscience, University of Virginia School of Medicine, Charlottesville, VA 22908, United States.
Cereb Cortex. 2024 Jan 14;34(1). doi: 10.1093/cercor/bhad432.
Characterized by enlarged brain ventricles, hydrocephalus is a common neurological disorder classically attributed to a primary defect in cerebrospinal fluid (CSF) homeostasis. Microcephaly ("small head") and hydrocephalus are typically viewed as two mutually exclusive phenomenon, since hydrocephalus is thought of as a fluid "plumbing" disorder leading to CSF accumulation, ventricular dilatation, and resultant macrocephaly. However, some cases of hydrocephalus can be associated with microcephaly. Recent work in the genomics of congenital hydrocephalus (CH) and an improved understanding of the tropism of certain viruses such as Zika and cytomegalovirus are beginning to shed light into the paradox "microcephalic hydrocephalus" by defining prenatal neural stem cells (NSC) as the spatiotemporal "scene of the crime." In some forms of CH and viral brain infections, impaired fetal NSC proliferation leads to decreased neurogenesis, cortical hypoplasia and impaired biomechanical interactions at the CSF-brain interface that collectively engender ventriculomegaly despite an overall and often striking decrease in head circumference. The coexistence of microcephaly and hydrocephalus suggests that these two phenotypes may overlap more than previously appreciated. Continued study of both conditions may be unexpectedly fertile ground for providing new insights into human NSC biology and our understanding of neurodevelopmental disorders.
脑积水的特征是脑室扩大,是一种常见的神经疾病,通常归因于脑脊液(CSF)内稳态的原发性缺陷。小头畸形(“小头”)和脑积水通常被视为两种相互排斥的现象,因为脑积水被认为是一种导致 CSF 积聚、脑室扩张和大头畸形的液体“管道”障碍。然而,一些脑积水病例可能与小头畸形有关。先天性脑积水(CH)的基因组学研究和对某些病毒(如寨卡病毒和巨细胞病毒)的趋化性的更好理解,开始通过将产前神经干细胞(NSC)定义为时空“犯罪现场”,揭示出“小头积水”的悖论。在某些形式的 CH 和病毒脑感染中,胎儿 NSC 增殖受损会导致神经发生减少、皮质发育不良以及 CSF-脑界面的生物力学相互作用受损,尽管头围总体上且通常显著减小,但脑室仍会扩大。小头畸形和脑积水的共存表明这两种表型可能比以前认为的重叠更多。对这两种情况的持续研究可能会出人意料地为提供对人类 NSC 生物学和我们对神经发育障碍的理解的新见解提供肥沃的土壤。