中枢神经系统海绵状血管瘤临床与病理研究

目的 深入研究中枢神经系统海绵状血管瘤(CH)临床表现与病理特点之间的内在联系，为临床治疗该疾病提供必要的理论依据。方法 将临床随机选取的CH标本70例分为出血—未出血、脑内—脑外、单发—多发组、分别进行常规HE染色以及α—平滑肌抗体(α—SMA)、血管内皮细胞生长因子(VEGF)、VEGF酪氨酸激酶受体(Flt—1)免疫组化染色，根据染色强度进行分类对照研究。结果 出血组VEGF、Flt—1染色强度明显高于未出血组，α—SMA表达弱于未出血组；脑外组表现为弹性较好的厚壁血管，脑内组为弹性较差的薄壁血管；多发CH系生物学行为相对活跃的病灶。结论 中枢神经系统CH临床表现与其病理特点密切相关。     

海绵窦海绵状血管瘤影像学特征及伽马刀治疗效果

目的总结海绵窦海绵状血管瘤MRI影像学特点,与鞍旁其他占位病变鉴别,提高临床诊断正确率,并评价伽马刀治疗海绵窦海绵状血管瘤的疗效。方法回顾性分析2010年4月到2017年4月四川大学华西医院经伽马刀治疗的海绵窦海绵状血管瘤42例患者的临床资料。治疗前接受MRI检查明确诊断,扫描序列包括T1加权成像、T2加权成像、FLAIR,以及经静脉注射钆喷酸葡胺后行增强T1WI扫描。伽马刀肿瘤周边照射剂量为11～16Gy,平均(14.4±1.1)Gy,45%～50%等剂量线覆盖,确保视交叉受照射剂量低于8Gy。术后第1年,每3个月进行随访,以后1次/年,患者来院进行临床疗效及肿瘤体积的评价。结果 42例患者中,TI加权像呈低信号25例,等信号17例;T2加权像均呈均匀高信号,如脑脊液信号;FLAIR像均呈高信号;增强扫描时均匀强化28例,不均匀强化14例。平均随访32.2±3.1个月(12～96个月),33例有症状的患者,症状改善率为96.9%(32例)。影像学随访显示,42例经伽马刀治疗的海绵窦海绵状血管瘤患者,治疗后肿瘤体积较治疗前明显缩小,差异有统计学意义[(8.9±0.9)cm~3比(31.5±3.5)cm~3,t=8.494,P值=0.008];肿瘤明显缩小34例(81%),肿瘤部分缩小8例(19%)。结论海绵窦海绵状血管瘤具有典型MRI影像特征,TI加权像呈略低信号或等信号,T2加权像呈均匀高信号,如脑脊液信号,在FLAIR像上也呈高信号,增强后均匀强化或不均匀强化,诊断特异性高,是诊断和鉴别诊断的依据。伽马刀治疗CSH疗效好,安全性高,并发症少,已基本取代显微手术,成为CSH的首选治疗方法。     

颅内海绵状血管瘤的诊治进展

颅内海绵状血管瘤(cerebral carvemous malformation,CCM)是一种少见的先天性脑血管畸形.随着MRI和立体定向神经外科的发展,CCM的诊断及治疗取得长足进步.本文结合国内外相关文献就其诊治作一综述.     

脊髓髓内海绵状血管瘤的显微外科治疗及预后

目的 探讨脊髓髓内海绵状血管瘤(ISCC)的临床过程、影像学特点、治疗策略.方法 对宣武医院神经外科1993年5月至2007年11月手术治疗的81例ISCC资料进行回顾性分析.结果 ISCC占同期脊髓血管病的8.7%;男:女=1.6:1;平均发病年龄为35.7岁;病灶位于胸段56例(69%),颈段23例(28%),腰段2例(3%);64例患者获得长期随访,平均随访48个月,神经功能改善23例,未变化35例,恶化6例.术后复发4例.结论 (1)ISCC好发于青壮年,胸段多见,颈段次之;(2)大部分ISCC在MRI有特征性的表现;(3)对症状明显、病灶位于脊髓背侧、非出血急性期的ISCC提倡显微手术治疗.     

脑内海绵状血管瘤的MRI和CT诊断

目的分析脑内海绵状血管瘤的CT和MRI影像学特点。方法回顾性分析68例CT和MRI表现,并比较CT和MRI优缺点。结果海绵状血管瘤位于幕上55例,幕下脑干4例,小脑9例。68例病灶有出血54例,钙化17例。MRI检查。T1加权像病灶显示为短T1高信号,周边为轻度低信号影;T2加权像病灶中央呈高、低混杂信号影,周边为极低黑色信号环。增强有轻度强化或无强化。CT平扫为斑片状不规则形高密度区。增强后有轻度强化或无强化。结论应用MRI诊断脑内海绵状血管瘤,其敏感性高,特异性强。对脑内海绵状血管瘤的显示MRI明显优于CT。     

遗传性中枢神经系统多发性海绵状血管瘤4例临床特点

目的 回顾性分析一家系4例中枢神经系统多发性海绵状血管瘤（cavernous malformations,CMs）的临床特点,以提高对此病的认识。方法 对一家系4例中枢神经系统多发性CMs患者进行详细的病史询问、查体、颅脑影像学、脑电图检查。结果 此家系为常染色体不完全显性遗传可能,呈家族性发病、神经系统多个部位受损、磁共振成像（magnetic resonance imaging,MRI）上表现为“铁环”征是该病的重要特点,磁敏感成像（susceptibility-weighted imaging,SWI）序列提示结果更为敏感。结论 本家族性中枢神经系统CMs病灶多发,MRI是诊断此病的重要手段。     

脑海绵状血管瘤21例影像诊断分析

目的探讨脑海绵状血管瘤的影像学诊断价值。方法对21例脑海绵状血管瘤的MRI、CT影像特征进行回顾分析。结果 21例均行MRI常规扫描,7例增强扫描,20例共有29个结节状或圆形病灶,分别呈T1加权像(WI)、T2WI高或低混合信号,T1WI稍低信号、T2WI高信号,T1WI、T2WI均高信号,T1WI、T2WI均低信号;1例6个病灶呈散在分布圆点形,T1WI、T2WI均低信号。14例行CT检查,显示17个病灶,均为较高密度病灶或不均匀稍高密度。结论脑海绵状血管瘤的MRI显示信号具有特征性,多数脑海绵状血管廇结合MRI及CT检查可以明确诊断。     

颅内海绵状血管瘤的诊断与显微外科治疗

目的探讨颅内海绵状血管瘤的诊断与显微手术治疗效果。方法分析32例（34个病灶）颅内海绵状血管瘤病人的临床表现、影像学特征、手术治疗及预后。病人术前均行头颅M刚和（或）CT检查,单发病灶30例,多发病灶2例。主要临床表现为头痛、癫痫及神经功能障碍。均行最微外科手术。结果全切除33个病灶,部分切除1个病灶,术前诊断均与病理相符。15例伴癫痫者术中均予皮质脑电监测,根据术中发现行扩大切除5例,皮质热灼3例;术后达EngelI级14例,EngelⅡ级1例,术后无新发癫痫病例。24例随访3—26个月,均未发现复发病例。结论影像技术的进步使颅内海绵状血管瘤的术前诊断率大大提高。颅内海绵状血管瘤可通过显微手术切除获得良好疗效。伴有癫痫者需行术中皮质脑电监测并根据术中发现决定手术策略。     

海绵窦海绵状血管瘤MRI诊断

正海绵窦海绵状血管瘤(cavernous hemangiomas in cavernous sinus,CHCS)为较少见的脑外海绵状血管瘤,好发于颅中窝鞍旁,易误诊为脑膜瘤[1-2]。其解剖结构特殊且富含血管,术前正确诊断可有效切除肿瘤,避免术中发生大出血等意外。本文回顾性分析我院11例经病理证实的CHCS的MRI资料,总结其特征,提高对该病的诊断水平。1材料与方法     

中国汉族家族性脑海绵状血管瘤：1家系谱回顾分析

目的　探讨汉族人家族性脑海绵状血管瘤的临床、影像学及病理特点。方法 对1家族性脑海绵状血管瘤家系进行临床、影像学和病理分析,并绘制家系遗传图谱。结果 该家系16人共4人发病,符合常染色体显性不完全外显遗传,临床以头痛、出血、局灶性神经功能障碍为主要表现,头颅MRITlWI多呈混杂信号,T2WI多为不均匀高信号为主的混杂信号,内部可见夹杂低信号,边缘为低信号环。镜下脑海绵状血管瘤由缺乏肌层和弹力纤维的大小不等的海绵状血管窦组成,病灶内可见玻璃样变、钙化或不同阶段的出血,病灶周围可有胶质增生带,病灶内部或周围含有含铁血黄素。结论 家族性脑海绵状血管瘤是常染色体不完全显性遗传病。头颅MRIT2加权像病灶周围含铁血黄素沉积的“铁环征”,是脑海绵状血管瘤的特征性MRI表现。其病理结构是其易反复少量出血及MRI影像表现复杂多样的主要原因。     

Cerebral cavernous angiomas: an atypical case in infancy

Cerebral cavernous angiomas (CCA) are rare, reportedly accounting for only 1% of all intracranial vascular lesions and 15% of all cerebral vascular malformations. Forms are sporadic or familial, and the mode of inheritance is probably autosomal dominant. We report an unusual case of an infant born at 37 weeks of gestational age following a normal pregnancy. Her birthweight was 1560 g. The family history was negative. At 10 months of age, the child presented with the sudden onset of muscular hypotonia, motility and strength deficits, and absence of osteotendinous reflexes in the right arm. The psychomotor development of the child was normal. MRI revealed the presence of a cavernous angioma in the paramedian pontine region. The child's monoparesis quickly disappeared. This case is interesting because of the age at onset and the way in which the clinical manifestations developed. Received: 12 July 1996 Revised: 4 December 1996     

颅内海绵状血管瘤的临床特征与显微外科治疗

目的 探讨颅内海绵状血管瘤的临床特征、影像学特点和显微外科手术治疗方法.方法总结分析广州医学院第二附属医院神经外科自1998年1月至2008年6月收治的189例颅内海绵状血管瘤患者的临床表现、神经影像学特征及显微外科手术治疗方法等资料. 结果 183例颅内海绵状血管瘤位于脑实质内,以头痛、癫痫及出血为主要临床表现,均全切除病灶;6例位于脑外中颅窝底区,其中全切除病灶5例,病灶活检1例. 结论 显微外科手术治疗颅内海绵状血管瘤是一种安全和有效的方法,其疗效满意.     

Intramedullary cavernous haemangiomas: clinical features,imaging diagnosis,surgical resection and outcome

The diagnosis, surgical treatment and outcome of seven patients with histologically verified intramedullary cavernous haemangiomas are reported. Five males and two females, with progressive myelopathy were observed. The patients were aged between 7 and 61 years. The duration of their symptoms and signs before diagnosis varied from one month to 5 years. Magnetic resonance (MR) imaging was performed in all patients and spinal angiography was performed in five. All the patients underwent microsurgical resection of the cavernous haemangiomas. MR imaging diagnosed cavernous haemangiomas in all seven patients. T1-weighted images with or without contrast enhancement best defined the margins and size of the lesions. They also illustrated the exophytic components and the change in spinal cord surface well, and were important to surgical planning. T2-weighted images may be suboptimal due to their magnetic susceptibility artifacts. In all lesions, total removal was achieved. Postoperative neurological function improved in all patients in long term follow-up. With the advantages of MR examinations and more understanding about the pathological characteristics of intramedullary cavernous haemangiomas, total removal of the mass lesion should be attempted and the outcome is generally good.     

脑内海绵状血管瘤的临床特点与微侵袭手术治疗

目的 总结脑内海绵状血管瘤（CA）的临床特点及手术治疗经验.方法 回顾性分析21例脑内型CA的临床资料和手术方法.首发症状为癫（癎）者16例,偏瘫或偏身感觉障碍者4例,无症状1例.采用神经导航辅助显微手术,其中4例同时做了颞叶部分切除,10例切除了胶质疤痕和含铁血黄素沉积带,2例在皮层脑电图监测下切除病灶和癫（癎）灶,余5例以含铁血黄素沉积带为界面切除病灶.结果 病灶均全切.21例患者随访0.5～4年恢复良好或无变化.结论 脑内型CA应积极手术治疗.合理采用微侵袭神经外科技术并遵循个体化原则有利于提高手术疗效.     

Familial cavernous angiomas of the brain in an Hispanic family

We found cavernous angiomas (CA) in 10 of 22 members of a large Hispanic family. The proband had seizures, and a CA was found at surgery. He and two sisters with seizures had normal angiograms, but CT or MRI showed lesions compatible with CA. Similar abnormalities were found in two cousins with seizures and 5 of 17 asymptomatic relatives studied. MRI proved to be more sensitive than CT for identifying CA. Hispanic families appear to have a predisposition for dominantly inherited CA of the brain.     

Cerebral cavernous malformation: novel mutation in a Chinese family and evidence for heterogeneity

Familial cerebral cavernous malformation (CCM) is an autosomal dominant disorder producing vascular anomalies throughout the central nervous system associated with seizures and hemorrhagic stroke. Linkage analysis has shown evidence for at least three genetic loci underlying this disorder with a founder mutation in the Mexican/Hispanic community. We report the first family of Chinese ethnic origin with CCM having a novel mutation in the CCM1 gene. The mutation in exon 19 causes a premature stop codon (Q698X) predicted to produce a truncated Krev1 interaction-trapped 1 (KRIT1) protein. Members of the family with this mutation have a wide range in age of onset with seizures, ataxia, spinal cord vascular malformation, headaches and skin lesions. An additional unrelated sporadic subject with brain lesions compatible with CCM as well as vascular skin findings suggesting the blue rubber bleb nevus (BRBN) syndrome has no mutation detected in the CCM1 gene. These findings expand the phenotype of and demonstrate further evidence for the heterogeneity in the CCM syndrome.     

Intracranial cavernous angiomas: diagnosis and therapy

The authors reviewed the case histories of 10 patients with intracranial cavernous angiomas treated from 1985 till 1987. Two patients are described in detail and are illustrated by CT scan, MRI scan and angiography. The diagnostic and therapeutic problems of intracranial cavernous angiomas are discussed.