Neuroradiology, AIIMS, New Delhi, India.
Neuroradiology, AIIMS, New Delhi, India
BMJ Case Rep. 2024 Feb 29;17(2):e258820. doi: 10.1136/bcr-2023-258820.
The coexistence of an arteriovenous fistula (AVF) and neuronal migration abnormalities is a rare phenomenon. The underlying pathophysiology responsible for these anomalies remains elusive. Neuronal architectural irregularities arise from complex neuronal formation, migration and organisation dysfunctions. Isolated cases of these associations are rarely described in the literature. Here, we present an unusual case involving the coexistence of a pial AVF and a pachygyria-polymicrogyria complex in an early childhood boy. We have provided a detailed description of the neuroimaging characteristics and the therapeutic embolisation in this case, along with follow-up. Additionally, we conduct a comprehensive review of potential hypotheses about the association, referencing prior case reports. The presence of an aberrant blood supply or deviant venous drainage from the developing cortex may contribute to a variety of neuronal migration anomalies.
动静脉瘘（AVF）和神经元迁移异常并存是一种罕见现象。导致这些异常的潜在病理生理学机制仍难以捉摸。神经元结构的不规则性源于复杂的神经元形成、迁移和组织功能障碍。文献中很少有这些关联的孤立病例描述。在这里，我们介绍了一个不常见的病例，涉及一个幼年男孩的软脑膜 AVF 和脑回发育不良-脑回过多畸形复杂并存。我们详细描述了该病例的神经影像学特征和治疗性栓塞，并进行了随访。此外，我们还对潜在的假说进行了全面的综述，参考了以前的病例报告。异常的血液供应或来自发育中的皮质的异常静脉引流可能导致各种神经元迁移异常。
