一个11岁女孩的非限制性脑静脉失生症:一个病例报告
Maryam Mozaffari1, Rasmus Holmboe Dahl2, Malene Landbo Børresen3
1Department of Radiology, Copenhagen University Hospital - Rigshospitalet, Blegdamsvej 9, Copenhagen Ø, DK, 2100, Denmark.
Pediatric radiology
|March 13, 2026
概括
这项研究在患有神经发育障碍和坎普多达克提利症的儿童中呈现了脑静脉发育失调的独特案例. 基因分析揭示了染色,为罕见的静脉形提供了新的见解.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 遗传学 是一个
- 放射学 放射学是一门学科.
背景情况:
- 限制性脑静脉病是一种罕见的疾病,其特征是特定的静脉异常和相关症状.
- 以前的描述涉及脑静脉缺血和内结.
研究的目的:
- 报告一个患有神经发育障碍的儿科患者脑静脉发育失调的独特病例.
- 为了研究这种罕见疾病的遗传基础和神经成像发现.
主要方法:
- 血管造影用于描述大脑静脉系统的特征.
- 进行磁共振成像 (MRI) 来评估静脉缺血症.
- 进行基因分析以确定染色体异常.
主要成果:
- 患者表现为皮层和皮层静脉的扩散扭曲,深静脉系统的部分发育不良以及横侧鼻的无形成.
- 核磁共振扫描显示没有脑静脉缺血的迹象.
- 基因分析发现了一种复杂的染色体重组,涉及染色体.
结论:
- 这一案例代表了非限制性脑静脉失生症的独特实例.
- 调查结果将这种静脉异常与染色和一系列不同的临床特征联系在一起,包括神经发育障碍.
相关概念视频
Aneurysm II: Clinical Manifestations and Diagnostic Studies
592
Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
592
Venous Thrombosis II: Clinical Manifestations and Diagnostic Studies
470
The key difference between Superficial Vein Thrombosis (SVT) and Deep Vein Thrombosis (DVT) lies in their location and severity.Clinical ManifestationsSVT typically presents with localized pain, tenderness, and redness along the course of a superficial vein, often accompanied by a palpable, cord-like structure under the skin. This condition is usually less dangerous than DVT but can be uncomfortable and may lead to complications such as cellulitis or, rarely, a clot extension into the deep...
470
Increased Intracranial Pressure l: Introduction
30
Intracranial hypertension is a sustained elevation of intracranial pressure (ICP) above 22 mm Hg. In supine adults, normal ICP is ~7–15 mm Hg.The rigid, nonexpandable cranium contains three components—brain tissue, blood, and cerebrospinal fluid (CSF)—that total ~1,700 mL in a typical adult: 1,400 mL brain (~80%), 150 mL blood (~10%), and 150 mL CSF (~10%). According to the Monro–Kellie doctrine, total intracranial volume is effectively fixed. When one component...
30
Increased Intracranial Pressure ll: Pathophysiology
39
Increased intracranial pressure (ICP) refers to a potentially life-threatening rise in pressure inside the skull. This usually happens when there is a major change in the volume of brain tissue, blood, or cerebrospinal fluid (CSF) — the three components inside the skull. According to the Monro-Kellie doctrine, if the volume of one component increases, the volumes of the other components must decrease to maintain normal pressure. If this does not happen, ICP rises.The process often begins...
39
Cerebral Edema l: Introduction
34
Cerebral edema is a pathological increase in brain water content that disrupts intracranial pressure regulation and impairs neurological function. Because the cranial vault is rigid, even modest increases in tissue volume can compromise cerebral perfusion, distort neural structures, and initiate secondary injury. Cerebral edema develops through four principal mechanisms: vasogenic, cytotoxic, interstitial, and ionic.Vasogenic EdemaVasogenic edema arises from disruption of the blood–brain...
34
Cerebral Edema ll: Pathophysiology
31
Vasogenic edema is a major form of cerebral edema characterized by abnormal accumulation of fluid in the brain’s extracellular space due to disruption of the blood–brain barrier (BBB). The BBB is a specialized structure composed of endothelial cells connected by tight junctions, supported by astrocytic endfeet and a basement membrane. Under normal conditions, it tightly regulates the movement of ions, proteins, and solutes between the bloodstream and brain parenchyma. When this...
31


