Perinatal pseudocoarctation: echocardiographic findings in vein of Galen malformation.

OBJECTIVE: Vein of Galen aneurysmal malformations (VGAMs) are rare congenital malformations thought to develop during weeks 6 to 11 of fetal life. Although they represent less than 1% of all cerebral vascular malformations, they constitute up to 30% of all pediatric vascular malformations. Vein of Galen aneurysmal malformations cause high-output heart failure in the fetus and neonate secondary to the decreased resistance and high blood flow in the lesion. We describe 2 cases, 1 prenatal and 1 postnatal, in which unusual aortic Doppler flow patterns and substantial brachiocephalic vessel dilation contributed to the discovery of a VGAM. METHODS: Echocardiographic findings associated with VGAM malformations in 2 cases are described. RESULTS: Unusual Doppler flow patterns and substantial brachiocephalic vessel dilation were seen in both cases. Pseudocoarctation of the aorta was also noted in both cases. CONCLUSIONS: The echocardiographic findings in fetal and neonatal VGAM may include pseudocoarctation of the aorta. Abnormal fetal cardiac findings should raise the practitioner's suspicion for cerebral malformations and vice versa.     

血管生长相关因子在脑血管畸形中的差异性表达

背景：脑血管畸形是在青壮年人群中造成出血性脑卒中的常见病因,畸形血管破裂出血可引发严重的神经功能障碍。脑血管畸形的形成及发病原理尚不明确。现代分子生物学的研究表明血管生长相关因子在脑血管畸形中可能存在异常表达。目的：评价血管生长相关因子在脑畸形血管中的表达差异,探讨血管生长相关因子与脑畸形血管形成的关系。方法：选择脑血管畸形患者与颅内出血开颅治疗患者各50例,通过免疫组织化学染色方法检测脑血管畸形标本和开颅治疗患者颞浅动脉标本中血管因子的表达差异。结果与结论：正常颞浅动脉中血管生长相关因子（血管内皮生长因子和转化生长因子α）几乎不表达,畸形血管中两者高表达（P〈0.05）。结果证实,与正常血管相比,脑血管畸形患者血管内皮生长因子和转化生长因子α的表达存在明显差异,脑畸形血管患者血管组织可表达更多的血管内皮生长因子和转化生长因子α。     

Recurrent transient ischemic attacks in a patient with intrapulmonary arteriovenous shunting detected after closure of a patent foramen ovale.

Paradoxical embolism through right-to-left shunts is widely accepted as a potential cause of cerebral ischemia. Contrast echocardiography is an excellent tool for detection of these shunts. The timing of the appearance of bubbles in the left atrium (ie, early vs late) allows differentiation of foramen ovale patency from intrapulmonary shunting as a result of arteriovenous malformations. We report a patient with recurrent neurologic deficit after surgical closure of a patent foramen ovale. Transesophageal echocardiography demonstrated residual right-to-left shunting from previously unrecognized pulmonary arteriovenous malformations associated with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu). This case illustrates the fact that contrast echocardiography may fail to identify intrapulmonary shunts when a resting patent foramen ovale coexists.     

COVID‐19 outbreak as a probable cause of increased risk of intracranial rebleeding in partially treated cerebral arteriovenous malformations

Patients who are infected with COVID‐19 and have cerebral arteriovenous malformations which are partially treated or untreated may be more liable to rupture or bleed than not infected patients.     

Arteriovenous malformations. Locations and evolution in the fetal brain

Almost all cerebral arteriovenous malformations in the fetus involve the vein of Galen, although occasionally they may involve the frontal area of the brain instead. In all reported cases arteriovenous malformations have presented some time after 30 weeks as a sonolucent oval lesion located in the midline behind the third ventricle. Previous scans have been normal. Evidence of high output failure such as cardiomegaly, enlarged neck veins, or hydrops predicts a poor outcome.     

Screening for children from families with Rendu–Osler–Weber disease: from geneticist to clinician

BACKGROUND: Rendu-Osler-Weber syndrome, or hereditary hemorrhagic telangiectasia (HHT), is an autosomal dominant vascular disorder. The syndrome is characterized by telangiectases and arteriovenous malformations (AVMs) affecting skin, mucosae and internal organs. AVMs often remain clinically silent until provoking sudden serious complications, responsible for important morbidity and mortality which can occur both in adulthood and in children. The incidence of AVMs in HHT pediatric populations is unknown. OBJECTIVE: To describe the screening protocol performed in the first genotypically confirmed HHT pediatric population and to estimate the incidence of occult brain, lung and liver AVMs and the different disease phenotypes. MATERIALS AND METHODS: Molecular analysis was performed on 35 children, both symptomatic and asymptomatic, who were family members of probands with a previously identified mutation. Clinical-instrumental examination was performed on the mutation positive cases. Nasal telangiectases were investigated by anterior rhinoscopy. Contrast echocardiography and high resolution thoracic multislice computed tomography (CT) were performed to detect pulmonary arteriovenous malformations (PAVMs), and echo-color Doppler, and abdominal CT to detect hepatic arteriovenous malformations (HAVMs). Brain magnetic resonance imaging was utilized to detect cerebral angiopathic involvement. RESULTS: Molecular analysis demonstrated the mutation-carrier status in 22/35 children. Nineteen children, 12 of whom had epistaxis, positive to molecular testing underwent clinical evaluation. Nasal teleangiectases were found in 68%, mucocutaneous telangiectases (fingers, lips and oral cavity) in 79%, PAVMs in 53%, HAVMs in 47% and cerebral anteriovenous malformations and/or cerebral ischemic changes secondary to PAVMs in 12%. CONCLUSIONS: We evidenced a high incidence of HHT children with occult visceral lesions suggesting that a diagnostic screening may be indicated to appropriately treat brain and lung malformations.     

儿童胼胝体发育不全的MRI诊断

目的阐述脑胼胝体发育不全及相关畸形的ＭＲＩ表现,并提出在不同方位上观察的重点内容。方法胼胝体发育不全的小儿患者１１例,ＭＲ成像仪为１０Ｔ扫描机,采用矢状面、横断面和冠状面成像,横断面为ＳＥＴ１和ＴｕｒｂｏＳＥＴ２ＷＩ,矢状和冠状面成像均为Ｔ１ＷＩ。正常对照组２０例,测量胼胝体的前后径、大脑额枕径及两者比例,其结果和病变组进行比较。结果胼胝体完全缺如２例,部分发育不全９例,胼胝体发育不全的ＭＲ征像包括：胼胝体变小或缺如（Ｐ＜００１）;三脑室扩大、升高并伸入半球间裂;侧脑室扩大,体部平行分离,前角分离;大脑前动脉、大脑内静脉和Ｇａｌｅｎ’ｓ静脉位置和形态异常;边缘系统发育畸形。另外,尚可见颅内脂肪瘤、脑灰质异位、多微脑回畸形和脑回肥厚。结论胼胝体发育不全是一种合并神经系统其他不同程度畸形的复合畸形,ＭＲＩ成像不仅能够明确胼胝体发育不全本身的畸形,而且还能够同时显示边缘系统的异常改变和并发的其他神经系统畸形,是该类疾病最佳的检查方法。     

Comparison between magnetic resonance imaging and fetopathology in the evaluation of fetal posterior fossa non-cystic abnormalities.

OBJECTIVES: To compare magnetic resonance imaging (MRI) and fetopathological findings in the evaluation of non-cystic fetal posterior fossa anomalies and to describe associated abnormalities. METHODS: This was a prospective study from 2000 to 2005 of fetuses identified on ultrasound as having sonographic suspicion of posterior fossa malformation. All underwent a thorough MRI examination of the fetal brain, after which we classified each fetus as presenting one of the following pathologies: vermian hypoplasia or agenesis, cerebellar and/or brain stem hypoplasia, destructive or dysplastic lesions. All of the pregnancies were then terminated, after which the whole fetus underwent fetopathological examination. We compared the findings from MRI and fetopathological examinations and recorded the associated cerebral and extracerebral abnormalities. RESULTS: Twenty-five fetuses were included. MRI was performed at a mean gestational age of 31 weeks, and fetopathological examination at 33 weeks. In 12 cases we observed vermian hypoplasia, six had partial vermian agenesis, 11 had cerebellar hemisphere hypoplasia, seven had brain stem hypoplasia, four had destructive lesions and six had dysplastic lesions. The two techniques were similar in their performance with respect to the detection of vermian agenesis, brain stem hypoplasia and destructive lesions. There were four false-positive results of MRI for vermian hypoplasia and a poor agreement regarding cerebellar hemisphere hypoplasia. No dysplastic lesions were diagnosed by MRI. None of the posterior fossa malformations was isolated and many cerebral and extracerebral abnormalities were found. CONCLUSION: A systematic analysis of the posterior fossa in fetal MRI makes it possible to diagnose accurately most posterior fossa malformations. These malformations never occurred in isolation in our study.     

Magnetic resonance imaging in pregnancy: study of fetal cerebral malformations.

This paper reports 15 examinations by magnetic resonance imaging (MRI) performed in pregnant women whose fetuses had cerebral malformations identified by sonography. In all the cases the fetuses were immobilized by ultrasound-guided intravenous or intramuscular curarization.The diagnoses by MRI and ultrasound differed only in one case where an occipital meningocele had first been suggested. No cerebral abnormalities were demonstrated in this case by the MRI study, and this was confirmed at birth. In the remaining 14 cases, MRI confirmed the ultrasound diagnosis of cerebral malformation. In four of these cases, MRI added some additional information to the ultrasound diagnosis of ventriculomegaly by detecting agenesis of the corpus callosum in two fetuses, one Chiari malformation and one triventricular hydrocephalus. Another two ultrasound diagnoses of microcephaly actually proved to be semilobar holoprosencephaly with MRI. In the following cases, the MRI diagnoses concurred with those of ultrasound, and was therefore used unnecessarily despite providing further anatomical details of the lesions: two cases of agenesis of the corpus callosum, one case of anencephaly, a cystic hygroma of the neck, an alobar holoprosencephaly, a Dandy-Walker malformation and a mild isolated hydrocephalus associated with diaphragmatic hernia. In one case of iniencephaly, sonography offered closer approximation to the correct diagnosis. The results obtained unequivocally confirm the high sensitivity of ultrasound examinations in the prenatal screening of cerebral malformations and show that MRI proves to be complementary in uncertain cases or when more accurate anatomical detail is required.     

听神经瘤合并隐匿型脑血管畸形

原发性颅内肿瘤同时并存脑血管畸形的病例是十分罕见的，加上本文报告的一例听神经鞘瘤并隐匿型血管畸形共３１例。本文结合文献复习对其病源学和诊治问题进行了研讨。     

脑血管疾病诊断中MRA与DSA对照分析

目的探讨磁共振血管成像(MRA)和数字减影血管造影(DSA)对脑血管性病变的诊断价值。方法回顾性总结46例脑血管性病变,分析对照MRA(包括MRI)和DSA影像结果。结果病变包括动脉瘤22例,血管畸形15例及动脉血管狭窄闭塞性疾病9例。MRA对42例做出正确诊断,总检出率为91.3%。其中动脉瘤检出率86.4%,动静脉畸形85.7%,动脉狭窄闭塞性疾病100%。3DTOF法MRA可较满意显示脑动脉血管主干或分支病变,PC法显示血管畸形具优势,增强扫描提高了动脉瘤的检出率。结论MRA用于脑血管病变的检查,具有安全、可靠和准确等优点,是很有价值的筛选工具。     

Intracerebral arteriovenous malformations presenting as neonatal congestive heart failure.

Intracerebral arteriovenous malformations (AVM) are a complex medical emergency in neonates. AVMs are congenital communications between the arterial and venous circulation. Occurring early in gestation, they may enlarge over time, promulgating a left-to-right shunt. This volume overload can present as severe congestive heart failure or as pronounced shock. This article discusses the pathophysiology, clinical presentation, diagnostic modalities, treatment regimens, nursing implications, and complications of cerebral AVMs. A case study is also presented.     

Vein of Galen arteriovenous malformation mimicking coarctation of the aorta

Arteriovenous malformation of the vein of Galen is a rare congenital intracranial anomaly lacking a capillary bed and subsequent aneurysmal enlargement of the arterial and venous system, warranting careful management due to associated morbidity and mortality. Coarctations of aorta demonstrate similar neonatal echocardiographic signs to the vein of Galen arterial malformation (VGAM). We present a boy at 37 weeks of gestation whose initial ultrasound and echocardiographic investigations showed a dominant right ventricle and isthmal hypoplasia, suggestive of coarctation of aorta. Follow-up ultrasound and echocardiography revealed an arteriovenous malformation involving middle and posterior cerebral artery branches, eliminating coarctation of aorta. VGAM was confirmed by further ultrasound and angiographic investigation, which demonstrated a tangle of cerebral and choroidal arterial branches centrally feeding into an enlarged vein of Galen. The boy’s hemodynamic and neurological statuses were confirmed to be stable despite increased venous pressure. Elective embolization at 7 months of age was complicated by a cerebrovascular accident, resulting in right hemiparesis despite no residual cardiac issues. This case demonstrates that rarely, arteriovenous malformations such as the vein of Galen malformations may be the primary cause of patients presenting with coarctation of aorta. The rarity of this condition and its guarded prognosis make our case of special interest to cardiologists and the perinatal care team.     

Prenatal diagnosis of persistent left superior vena cava and its associated congenital anomalies.

OBJECTIVE: To evaluate the associated conditions and the outcome of persistent left superior vena cava (PLSVC) detected in fetal life. METHODS: This was a retrospective review of all cases of PLSVC detected prenatally between 1998 and 2004 in two tertiary referral centers in Germany. Patient charts, ultrasound video recordings and still frames of all cases were reviewed for associated conditions and outcome. RESULTS: Eighty-two cases of PLSVC were detected in the study period. Thirty-seven cases (45%) were associated with heterotaxy syndromes, 19 (23%) with isolated cardiac malformations, seven (9%) with aneuploidy, six (7%) with complex malformation syndromes and six (7%) with isolated extracardiac malformations. Seven cases (9%) had no associated condition. Eighty-three percent of the fetuses in this series had associated cardiac malformations; the most frequent cardiac malformations in those with heterotaxy syndromes were complete atrioventricular septal defect (75%) and right outflow tract obstruction (58%). After exclusion of cases with heterotaxy, most congenital heart defects were ventricular septal defects (41%) and coarctation (34%). The outcome of PLSVC was determined solely by the associated conditions. After exclusion of terminated cases, heterotaxy syndromes as well as complete atrioventricular septal defects were associated significantly with perinatal and infant death. In contrast, all cases with isolated PLSVC or associated correctable extracardiac malformations survived and were doing well at the time of writing. CONCLUSIONS: PLSVC detected in fetal life has to be followed by a meticulous inspection of the fetal anatomy as it is frequently associated with heterotaxy syndromes, other cardiac/non-cardiac malformations and aneuploidy that determine the outcome. Isolated PLSVC is a benign vascular anomaly and may not affect the outcome.     

伽玛刀治疗脑动静脉畸形的近况

简述了脑动静脉畸形用伽玛刀治疗后的病理组织变化、疗效及一些影响因素。实践证明,伽玛刀是治疗脑动静脉畸形的一种良好方法,其并发症少,但亦受一些影响因素的干扰。     

Paraspinous hemolymphangioma associated with adolescent scoliosis

Lymphangiomas are a group of benign malformations of the lymphatic system, and hemolymphangioma(or hemangiolymphangioma) is a rare congenital malformation of the lymphatic system with vascular involvement. These benign malformations are most commonly diagnosed at an early age, and may be present as a part of an associated syndrome. In this case report, we describe the first case of adolescent scoliosis associated with a large, paraspinous hemolymphangioma. A 15-year-old girl with an incidental finding of a paraspinous hemolymphangioma is presented along with her history, physical exam, radiographic findings, and operative course. The possible pathogenesis, treatment approach, and clinical dilemmas are also discussed. Given the well-known relationship between tumors and scoliosis, a benign paraspinous vascular and lymphatic tumor may be responsible for the presence of scoliosis in a small number of patients.     

Hereditary generalized juvenile polyposis: Association with arteriovenous malformations and risk of malignancy

A young man with hereditary juvenile polyposis, a duodenal adenoma with carcinoma in situ, and multiple arteriovenous malformations of the lungs and liver is reported. Because of the risk of malignancy, it is suggested that patients with juvenile polyposis have endoscopic or radiographic surveillance of the upper gastrointestinal tract in addition to either prophylactic colectomy or regular colonoscopic surveillance with polypectomy. In view of the serious potential complications of associated pulmonary, cerebral, and hepatic arteriovenous malformations, screening of patients with juvenile polyposis with chest radiography, magnetic resonance imaging of the brain, and sonography of the liver may be warranted.     

基质结构蛋白在脑血管畸形中的表达差异

背景：有研究表明脑血管畸形中存在管壁结构基质蛋白的表达差异,但血管畸形间结构基质蛋白的差异及结构蛋白差异与畸形血管管壁异形关系少有报道.目的：观察基质结构蛋白在脑血管畸形中的差异性表达.方法：对50例脑血管畸形手术标本和34例正常颞浅动脉标本进行苏木精-伊红染色,并应用美国Santa Cruz公司生产单/多克隆抗体对4种基质结构蛋白-Ⅳ型胶原蛋白、a-血管平滑肌蛋白、层粘连蛋白和纤维连接蛋白免疫组织化学染色.结果与结论：苏木精-伊红染色显示,脑血管畸形壁结构与正常血管相比呈现明显紊乱和构成异形性;且脑血管畸形中,脑动静脉畸形与海绵状血管瘤结构存在明显差异.免疫组织化学染色显示：正常颞浅动脉和畸形血管中Ⅳ型胶原和a-血管平滑肌蛋白全部呈阳性表达且无显著性差异,但结构排列差异明显;正常颞浅动脉与畸形血管层粘连蛋白和纤维连接蛋白表达阳性率差异有显著性意义（P＜0.05）,正常血管表达更多层粘连蛋白,畸形血管表达更多纤维连接蛋白;畸形血管中脑动静脉畸形和海绵状血管瘤间层粘连蛋白和纤维连接蛋白的阳性率表达差异有显著性意义（P＜0.05）,脑动静脉畸形血管表达更多层粘连蛋白,海绵状血管瘤血管表达更多纤维连接蛋白.结果证实：与正常血管相比,脑血管畸形者管壁结构存在明显异形性,结构蛋白Ⅳ型胶原和a-血管平滑肌蛋白结构明显紊乱,且低表达层粘连蛋白而高表达纤维连接蛋白,这种差异可能是导致脑血管壁结构异常的原因.     

Magnetic resonance imaging of fetal developmental anomalies

Fetal developmental anomalies consist of central nervous system malformations, brain injury, and tumors. Overlap is often seen especially between malformation and injury because malformation may be genetically determined or related to external causative agent, whereas brain injury may be, on one hand, caused by malformation as with intracranial vascular malformation and, on another, can cause brain malformation when cerebral insult occurs during organogenesis and histogenesis. The goal of this review was not to describe by magnetic resonance imaging (MRI) all fetal developmental anomalies encountered in utero; it is most likely to focus on fetal brain anomalies that either are most commonly seen in fetal tertiary care facility or are extremely challenging for MRI. Consequently, the potential of advanced MR techniques such as proton MR spectroscopy and diffusion tensor imaging is also described especially when a challenge is highlighted. This review is therefore organized in subchapters as follows. The first section gives the place of MRI in prenatal development and cites the standard protocol and the advanced techniques. The rules of fetal brain MRI, the challenge and pitfalls, and the selection of MRI cases follow as 3 subchapters. Also, abnormalities are described as 3 separate subchapters entitled ventriculomegalies (hydrocephalus), malformations, and brain injury.     

Cerebrovascular disorders associated with pregnancy

Stroke is a leading cause of maternal death. Intracerebral hemorrhage may be associated with eclampsia, metastatic choriocarcinoma or ruptured arteriovenous malformations. Intracranial venous thrombosis may result from a hypercoagulable state or local intracranial vascular damage. Subarachnoid hemorrhage is usually caused by the rupture of an intracranial aneurysm or arteriovenous malformation. Signs and symptoms of stroke in pregnancy can be confusing. The physician must be aware of these signs to avoid mismanagement of the pregnant stroke patient.