Chiari I malformation and neurofibromatosis type 1

Single case reports exist in the medical literature of patients with tonsillar ectopia, i.e., the Chiari I malformation and neurofibromatosis type 1. However, large series of patients with either of these entities have not been examined for the presence of both defects. We have retrospectively examined two large groups of pediatric patients: Group I, with the primary diagnosis of Chiari I malformation, who have undergone posterior fossa decompression for symptomatology; and Group II patients, who have been observed in our hospital's neurofibromatosis clinic for evaluation. Of 130 surgically addressed Chiari I malformations (Group I), we determined that 5.4% of these patients had the additional diagnosis of neurofibromatosis type 1. Of Group II patients (198) who underwent imaging of the brain, 8.6% were found to have a concomitant Chiari I malformation. These data suggest that Chiari I malformation and neurofibromatosis type 1 are not spurious findings but rather true associations. We hypothesize that the same early dysgenesis of mesoderm that is widely accepted as a culprit in the genesis of many Chiari I malformations is the same pathology affecting primitive development of tissues involved in many patients with neurofibromatosis type 1. Perhaps these data will aid in the determination of a genetic locus for the Chiari I malformation.     

头皮血管畸形的外科治疗（附12例报告）

目的探讨头皮血管畸形的外科治疗方法及效果。方法12例头皮血管畸形均经显微手术全切除。畸形血管团直径5cm以下者3例,5～10cm者5例,10cm以上者4例。结果病理检查证实海绵状血管畸形3例,动静脉畸形9例。12例在随访期内（随访6个月至8年）均获痊愈,未见复发。结论手术全切除治疗头皮血管畸形最为彻底,应作为首选。采用头皮皮瓣,手术中仔细辨认头皮的正常血管和畸形的供血血管,分离暴露畸形的供血血管后结扎离断,待畸形血管团萎陷后,将畸形从皮下组织中完整分离切除,分离过程中保留完整的真皮层,是减少手术失血和防止术后头皮缺损的重要方法。对于骨膜中异常增多增粗的血管和累及颞肌的血管,应彻底切除,防止术后复发。     

Intracranial hypertension associated with unruptured cerebral arteriovenous malformations

Only 6 patients with intracranial hypertension associated with unruptured cerebral arteriovenous malformations have been reported. We report 6 additional patients seen at the Cleveland Clinic during the past 10 years. The average age was 28 years (range, 19-44 years); 4 were women. Symptoms and signs included papilledema (6 patients), headache (6), transient nonepileptic focal symptoms (4), visual obscurations (3), ipsilateral carotid or ocular bruits (3), abnormal visual fields (3), focal seizures (2), and progressive visual loss (1). Enhanced computed tomography (CT) or magnetic resonance imaging (MRI) demonstrated the malformations in all 6 patients. The malformations were large, supplied by the branches of the middle and anterior cerebral arteries, with the posterior cerebral artery contributing in 3 patients, and all drained into the superior sagittal sinus. Associated venous obstruction was seen in 2 patients. Four patients underwent excision of the arteriovenous malformation, with resolution of papilledema in all 4. Measurements of cortical arterial and venous pressures during surgery in 3 patients showed decreased feeding artery pressures and elevated draining vein pressures, which normalized after removal of the malformation. Treatment in the 2 remaining patients consisted of medical therapy (acetazolamide, furosemide, steroids) alone in 1 patient, and in conjunction with proton beam radiation in the other. Papilledema resolved in the former patient, but the patient receiving proton beam radiation still had papilledema 2 years later. Intracranial hypertension associated with unruptured cerebral arteriovenous malformations occurs in young patients with high flow malformations that drain into the superior sagittal sinus, and is likely the result of increased cortical venous and superior sagittal sinus pressure. Excision of the malformation effectively reduces the intracranial pressure.     

Vertebro-epidural lumbosacral vascular malformations. An unusual cause of lumbo-sciatic pain

Sciatica is most commonly caused by nerve root compression secondary to herniated disk. Rarely, it can be due to a lumbosacral vascular malformation. We present five cases with such a malformation, presenting as a chronic lumboradiculagia. The patients were explored with computed tomography, MRI and selective spinal angiography. Polymorphic anatomic and hemodynamic aspect of these cases are reported: 1. One vertebral hemangioma with epidural extension; 2. Three purely epidural malformations: a) one epidural cavernous hemangioma, b) one epidural arteriovenous malformation, c) one epidural varix; 3. One paravertebral arteriovenous fistula with epidural venous drainage. Diagnosis of these rare malformations may be difficult. A multiplanar cross-sectional magnetic resonance and computed tomography scan with contrast enhancement can show characteristic abnormalities and may assist in recognition these malformations. Selective spinal angiography confirms the diagnosis, allows to classify the malformation and is required to evaluate endovascular therapeutic possibilities.     

Surgical treatment of spinal vascular malformations performed using intraoperative indocyanine green videoangiography

This study aims to evaluate the benefits of intraoperative indocyanine green (ICG) videoangiography and associated surgical outcomes of patients with spinal vascular malformations. ICG videoangiography was used during 24 surgical interventions to treat spinal vascular malformations at the Beijing Tiantan Hospital from August 2009 to May 2011. The vascular malformations were removed or the fistulae were occluded with the assistance of ICG videoangiography. The completeness of fistula clipping or nidus extirpation and each patient’s neurological status were evaluated. Among these 24 patients, there were seven with spinal dural arteriovenous fistulae, five glomus arteriovenous malformations, one juvenile arteriovenous malformation, nine perimedullary arteriovenous fistulae, and two perimedullary arteriovenous fistulae in combination with perimedullary arteriovenous malformations. Intraoperative ICG videoangiography confirmed the definite clipping of the fistulous points and complete removal of intramedullary arteriovenous malformations in all but one patient. All patients had satisfactory preservation of spinal cord blood supply and venous return. No adverse effects or complications related to ICG videoangiography occurred. Three patients were lost to follow up; 21 patients were followed clinically with a mean follow up of 7.5 months. The neurological deficits completely resolved in six patients, improved significantly in 10, remained stable in two, and were aggravated in three patients. Our experience shows that intraoperative ICG videoangiography offers useful information on the pathological and physiological vascular anatomy encountered during surgery for spinal vascular malformations.     

Pericapillary arteriovenous malformations angiographically manifested as cerebral venous malformations

Cerebral venous malformations have been diagnosed by angiographic features and are considered to be a benign anomaly. However, ample evidence indicates that stroke or similar symptomatology occurs in patients harboring a cerebral vascular malformation that was diagnosed angiographically as a venous malformation. The purpose of the study is to confirm the presence of a pericapillary arteriovenous malformation in these patients by analyzing the clinical history and surgical findings and correlating them with histological features. Thirteen patients were included in this study. Each patient fulfilled four criteria: 1. the patient was neurologically symptomatic; 2. the angiographic diagnosis was a venous malformation; 3. at operation, shunting arterioles (50-100 microns) were found to contribute to the malformation; and 4. histologically, a mixture of venous channels and arterioles with arterioles directly connected to venules was found. Based on the above findings, the malformation present in the 13 patients can be termed a 'pericapillary arteriovenous malformation'. Its angiographic distinction from the cerebral venous malformation requires technological advancement in the capability of magnifying images of arterioles and venules, along with improvement in image resolution.     

Conus perimedullary arteriovenous fistula in a child: unusual angio-architectural features and pathophysiology

INTRODUCTION: The perimedullary arteriovenous fistulas are located on the pial surface and are usually supplied by spinal medullary arteries, that is, either by the anterior or posterior spinal arteries, with no intervening nidus between the feeder arteries and the venous drainage. The clinical findings are, more commonly, caused by progressive radiculomedullary ischemic processes secondary to steal vascular mechanism. As the vascular supply to the spinal cord and to the arteriovenous fistulas (AVF) is not shared with one another, the vascular steal phenomenon cannot be implicated in this case's physiopathology. Most probably, the mass effect caused by the giant venous dilatation was the pathophysiological mechanism involved in this lesion CASE REPORT: The authors describe the case of a 6-year-old girl with an intradural ventral arteriovenous fistula, with a giant venous dilatation, fed directly by L2 and L3 radiculomedullary arteries at the conus medullaris. There was no arterial supply to the fistula from the anterior or posterior spinal arteries. Selective spinal angiography showed an arteriovenous fistula supplied directly by two radiculomedullary arteries, with a large draining vein caudally. Interposing the arterial and venous vessels was a giant venous aneurysmal dilatation located ventral to the conus medullaris and extending from L3 to T6. The patient was successfully treated by a surgical approach through a laminotomy from L3 to T11. CONCLUSION: The type IV-C spinal arteriovenous malformations or perimedullary AVFs are rare lesions predominately described at the conus medullaris with various types of angio-architecture and controversial treatment.     

Lipomyelomeningocele and arteriovenous malformation: case reports and a review of the literature

Introduction The caudal end of the human embryo is a major site of multipotential cells. We now present two cases of simultaneous arteriovenous malformation and lipomyelomeningocele and review the literature regarding this potential association.Discussion In the context of rarity and following a review of the literature, both an arteriovenous malformation and lipomyelomeningocele in the same patient appears to be more than serendipitous. The natural history of these vascular malformations in patients with concomitant lipoma or lipomyelomeningocele cannot be determined from such a small group. However, only one patient in our review was found to have consequences thought to be related to their arteriovenous malformation, which was in the upper thoracic region and not related to a lipomyelomeningocele.     

Arteriovenous malformations of the brain in children

A survey of 23 children treated for arteriovenous malformations of the brain is presented. Venous angiomas and aneurysms of the vein of Galen were excluded. Spontaneous hemorrhage was the first symptom in 83%. Angiographically occult arteriovenous malformations were found in 22% of cases. Contrast-enhanced CT failed to opacify abnormal vessels in most of these occult lesions. Fourteen patients underwent complete excision of their malformation with only 1 death (7.1% surgical mortality). Overall mortality for the group was 21.7%. Outcome was related to treatment modality and clinical condition on presentation. Four of 8 patients presenting in deep coma died, but 3 are normal and one slightly disabled. A spontaneous cerebral hemorrhage in a child is probably due to a vascular malformation, even when angiography and enhanced CT are negative. Optimal management consists of complete removal of the malformation; residual lesions tend to rebleed with fatal outcome. With aggressive treatment, complete recovery is possible even for children who present in coma.     

Transarterial Embolization of Intracranial Arteriovenous Fistulas with Large Venous Pouches in the Form of Venous Outlet Ectasia and Large Venous Varix or Aneurysm : Two Centers Experience

ObjectiveThere are different types of cerebral vascular malformations. Pial arteriovenous fistulas (PAVFs) and dural arteriovenous fistulas (DAVFs) are two entities; they consist of one or more arterial connections to a single venous outlet without a true intervening nidus. The high turbulent flow of PAVFs and aggressive DAVFs with cortical venous reflux can result in venous outflow varix and aneurysmal dilatation. They pose a significant challenge to transvenous embolization (TVE), stereotactic radiosurgery, and surgical treatment. We aim to share our centers’ experience with the transarterial embolization (TAE) for arteriovenous fistulas (AVFs) with large venous pouches and to report the outcome. MethodsThe authors’ two institutions’ databases were retrospectively reviewed from February 2017 to February 2021. All patients with intracranial high flow PAVFs and aggressive DAVFs with venous outlet ectasia and large venous varix and were treated by TAE were included. ResultsFifteen patients harboring 11 DAVFs and four PAVFs met our inclusion criteria. All patients underwent TAE in 17 sessions. Complete angiographic obliteration was achieved after 14 sessions in 12 patients (80%). Four patients (25%) had residual after one TAE session. Technical failure was documented in one patient (6.7%). Fourteen patients (93.3%) had favorable functional outcome (modified Rankin score 0–2). ConclusionsTAE for high flow or aggressive intracranial AVFs is a safe and considerable treatment option, especially for those associated with large venous pouches that are challenging and relatively high-risk for TVE.     

硬脑膜动-静脉瘘合并髓静脉扩张的临床及影像学表现(附1例报告及文献复习)

目的报道1例硬脑膜动-静脉瘘(DAVF)合并髓静脉扩张病例的临床资料,探讨DAVF合并髓静脉扩张的临床及影像学表现。方法回顾性收集1例DAVF合并髓静脉扩张患者的临床及影像学资料,并结合文献复习进行分析。结果患者以症状性癫痫起病。头颅MRI表现为脑白质内迂曲、扩张血管影,并继发性脑梗死和脑水肿;全脑数字减影血管造影(DSA)提示右侧颈内动脉造影静脉期上矢状窦前1/3不显影,静脉晚期颅内多发髓静脉迂曲增粗,经室管膜下静脉-大脑内静脉回流,右侧颈外动脉造影示DAVF形成,大脑上静脉逆向回流,左侧颈内动脉造影示左侧发育性静脉畸形。经血管内介入栓塞DAVF治疗后患者病情改善。结论DAVF合并髓静脉扩张少见,可继发脑实质病变进而出现神经功能缺损症状与体征;影像学表现为头颅MRI提示髓静脉扩张涉及的疾病谱较多,需仔细鉴别;MRI和DSA联合检查能更好评价脑实质和血管情况。     

Cerebral dominance for speech and handwriting of patients with cortical vascular malformations

Abstract

Lateralization of speech dominance was established using amobarbital for 22 patients with vascular malformations lateralized to the left cerebral hemisphere. Patients' histories were negative for clinically evident neurological events (e.g., seizures or hemorrhage) prior to adulthood. The vascular lesions were categorized as high flow arteriovenous malformations (AVMs) (n = 4), low flow AVMs (n = 6), cavernous hemangiomas (n = 10), or venous angiomas (n = 2) by reviewing angiographic findings and surgical pathology for those patients whose lesions were excised. Three of the malformations encroached upon primary language areas. The frequency of right hemisphere speech dominance was not significantly elevated in comparison with the normal population, even though the incidence of nonright-handedness was. Ninety-five percent of the patients were left hemisphere dominant for speech: only one patient, with a parietal lobe cavernous hemangioma, was found to be right hemisphere dominant for speech. This malformation did not involve the primary language areas. These findings suggest that vascular malformations do not affect speech dominance as readily as other neurological diseases, but frequently affect manual dominance.     

Epileptogenic cerebral vascular malformations and MRI

The results of magnetic resonance imaging (MRI) performed in 67 patients with cerebral vascular malformations (35 arteriovenous malformations [AVM], 29 cryptic malformations, 11 venous angiomas and 2 associated lesions) were studied retrospectively after the patient population was divided into epileptics [25] and non-epileptics [42]. Several criteria were determined for each type of malformation in the two groups. They included patient's age, site of the malformation in relation to the cortex, size of the malformation, presence of a perilesional high-intensity signal on T2-weighted sequences and evidence of recent haemorrhage. Epileptogenic AVMs seemed to be more superficial and more often associated with a perilesional parenchymatous high-intensity signal on T2-weighted sequences than non-epileptogenic malformations. Epileptogenic cryptic malformations were closer to the cortex, larger, and specifically but rarely associated with changes in signal of the adjacent brain tissue on T2-weighted sequences. The few angiomas associated with epilepsy were, paradoxically, located in the cerebellum.     

脑动静脉畸形患者癫痫间发作的相关因素分析

目的 探讨脑动静脉畸形并发癫痫间发作的相关危险因素以及癫痫间的合理预防措施。方法 回顾性分析286例脑动静脉畸形患者的临床及脑动静脉畸形基线资料。根据是否合并癫痫间发作分为癫痫间组和对照组。分析脑动静脉畸形患者并发癫痫间发作的危险因素,观察癫痫间组92例患者的发作类型及发作频率以及药物治疗反应情况。结果 癫痫间组与对照组畸形血管团的位置、畸形血管团直径、静脉引流方向等因素比较差异明显(P<0.05); 非条件多因素Logistic回归分析显示对脑动静脉畸形患者癫痫间发作有显著影响的因素为畸形团直径大于3 cm和由浅静脉或者浅深静脉共同引流(P<0.05)。经过抗癫痫间药物治疗,癫痫间组有69例患者癫痫间发作得到了完全控制,余患者发作频率均有不同程度减低。结论 畸形团直径大于3cm和由浅静脉或者浅深静脉共同引流是脑动静脉畸形患者并发癫痫间的危险因素; 脑动静脉畸形合并的癫痫间发作是一个相对良性过程,抗癫痫间药物对多数癫痫间患者治疗有效。     

酷似高血压脑出血的基底节区血管畸形的显微外科治疗

目的探讨基底节区血管畸形出血的诊断及显微外科治疗。方法回顾性收集2011年2月~2014年12月在我院收治的12例基底节区血管畸形出血患者的临床和影像学资料、手术所见及病理结果。结果 10例行小骨窗开颅术,2例行大骨瓣开颅术,术中见血肿壁异常血管组织,无明显粗大的供血动脉及引流静脉,术后病检结果动静脉畸形8例,海绵状血管瘤4例。结论对于基底节区脑出血的患者,应警惕血管畸形出血的可能,术前应注意鉴别,该部位血管畸形多较小,无明显粗大的供血动脉及引流静脉,术中应注意在血管畸形周边切除畸形血管团。     

Secondary epileptogenesis in cerebral arteriovenous malformations

There is debate as to whether secondary epileptogenesis occurs in humans. As part of a series of patients with cerebral arteriovenous malformations and epilepsy, we identified two patients with probable secondary epileptogenesis in the mesiotemporal regions, ipsilateral but anatomically distant from an arteriovenous malformation causing seizures. Both patients had arteriovenous malformations outside the mesiotemporal region and resection of the arteriovenous malformation and epileptogenic areas identified by electrocorticography produced initial freedom from seizures. Three to 6 months later both patients developed a different seizure pattern that proved to be mesiotemporal in origin by video/electroencephalogram (one with depth electrodes) and both patients are seizure free after a second resection of anterotemporal and mesiotemporal regions. Findings indicating a secondary epileptogenic focus include (1) different seizure type by patient history, (2) second seizure type by ictal video/electroencephalographic recordings, and (3) lack of pathologic abnormalities in the resected mesiotemporal specimens.     

Imaging of congenital vascular and lymphatic anomalies of the head and neck

Congenital lymphatic and vascular malformations and infantile hemangiomas can be combined under the heading of endothelial malformations. Based on their biologic behavior, endothelial malformations can be divided into two groups: infantile hemangiomas and vascular malformations. Vascular malformations can be subdivided into lymphatic, capillary, venous, and arteriovenous malformations. Often frightening for the patient and the patient's family, some endothelial malformations, however, will resolve; yet others can lead to long-term disfigurement and even can be fatal-due to airway obstruction, secondary infection, or exsanguination. When recognized early, however, the appropriate therapy, or watchful waiting, can be initiated, and the long-term physical and psychological consequences of these malformations can be minimized.     

常规MRI及MRA结合磁敏感加权成像技术在脑血管畸形诊断中的应用

目的 探讨MRI磁敏感加权成像(SWI)技术在诊断脑血管畸形中的价值,并比较其与常规MRI及MRA技术检出率的差异。 方法 选择自2008年5月至2010年12月珠江医院收治的46例脑血管畸形患者进行T1WI、T2WI、3DTOF、SWI及增强扫描,将SWI结果与常规MRI结果进行比较。 结果 46例患者中动静脉畸形25例,海绵状血管瘤10例,脑静脉畸形8例,毛细血管扩张症3例。SWI均能显示全部畸形病变,包括较小的畸形病灶,但不能全部显示动静脉畸形的供血动脉,较大的脑动静脉畸形以3DTOF法显示最好。 结论 SWI技术对显示小的脑血管畸形有明显优势,可清晰、准确地显示脑血管病变,结合其他MR序列有助于明确各种类型脑血管畸形的诊断。     

Cerebral venous angiomas. 12 personal cases and review of the literature]

Cerebral venous angiomas (CVAs) are made up of veins with abnormal structure: thick walls, lumens dilated of irregular calibre that converge radially towards a wide draining vein. The arteries are normal. The veins are separated by a normal nervous tissue. The malformation is thought to develop as a compensatory venous drainage consecutive to the occlusion, or lack of development, of one or several transcerebral veins during the formation of the mature venous system. Together with arteriovenous angiomas, capillary telangiectasias and cavernous angiomas, CVAs belong to the vascular angiomatous malformations, also called hamartomas. The present study is based on 12 cases collected between 1984 and 1989, all explored by CT and angiography, and by MRI in 2 cases. The diagnosis therefore was neuroradiological, except in 1 case where it was obtained by neuropathological examination. The malformation was supratentorial in 10 cases and cerebellar in 2 cases. Most CVAs were discovered in patients whose symptoms could hardly be attributed to these malformations and consequently were termed asymptomatic (6 cases). Two cases were found in subjects with generalized epileptic seizures without clear-cut relationship with the angioma; 4 cases were revealed by haemorrhages: subarachnoidal haemorrhage in 2 cases and supratentorial intraparenchymatous haematoma in 1 case. These 3 cases had a spontaneously favourable outcome after a follow-up of several years. One patient with a cerebellar hematoma died postoperatively of edematous infarction of the cerebellum. One of these patients had two symmetrical CVAs, one in each cerebral hemisphere (multiple venous angiomas), and in another patient the CVA was probably associated with a cavernous angioma.(ABSTRACT TRUNCATED AT 250 WORDS)     

CT in the diagnosis of cerebral vascular malformations

Summary In 72 patients with spontaneous intracranial haemorrhage and vascular malformation, 27 of 49 arterial aneurysms were diagnosed by CT (the smallest one of 4 mm diameter being stalked), as were all (18) of the arteriovenous aneurysms (angiomas), but of the venous malformations (5) only 2 (aneurysms of the vein of Galen) were so diagnosed. In the 25 patients with spontaneous subarachnoid haemorrhage, in whom vascular malformation had not been diagnosed through angiography or CT, CT showed the position and extent of the parenchymatous lesion or the existence of blood in the subarachnoid space or ventricules. Finally, in 15 patients with subjective or neuropsychiatric disturbances, 9 arterial and 6 arteriovenous aneurysms were diagnosed by CT and were verified by angiography, which would probably not have been performed if CT had not been performed. Thus it is clear that vascular malformations are often diagnosed by CT. In many cases information is revealed which would not be suspected with angiography, while in other cases angiography is more selective and accurate.