Familial cerebral cavernous angiomas

Three families with two or more members affected by cavernous angiomas of the brain are described and the other 17 reported in the literature are reviewed. The familial occurrence of cerebral cavernous angiomas has been considered a rare event; nevertheless, the experience of the authors (positive familiarity in three patients where two or more relatives have been explored radiologically) suggests that cavernous angiomas of the brain might be, at least in most cases, a familial disease. Therefore, when a patient with cerebral cavernous angioma is observed, a careful familial history and the exploration of the familial members by computerized tomography or better still by magnetic resonance must be performed. The high frequency of multiple lesions in familial cases, the surgical indications and the role of the ultrasonic prenatal diagnosis are also discussed.     

Familial cerebral,hepatic, and retinal cavernous angiomas: a new syndrome

New, non-invasive neuroradiological techniques [computed tomography (CT) and magnetic resonance (MR)] have led to reassessment of the incidence of cavernous angioma of the brain (CCA), which is sometimes multiple and associated with cavernomas in other organs. CCA is known to be familial, with dominant autosomal transmission. This paper concerns a family with multiple CCA, sometimes in association with liver angiomas, in ten members belonging to four different generations. These malformations can vary in clinical expression: no neurological symptoms have been detected in subjects from the first or second generations, but they were found in adult age in subjects from the third generation; two fourth-generation patients came under our observation at 2.5 years of age. Symptoms include partial epileptic fits, which sometimes become generalized later and which are generally controlled adequately by therapy. Patients also present paresthesia and occasional motor deficiencies corresponding to CCA bleeding episodes; these symptoms have always abated with medical treatment alone. None of the patients are mentally retarded or restricted in their daily lives. Neuroradiological investigations (CT, MR, angiography) reveal typical multiple brain lesions in all patients. Given the first-generation patient's clinical history of symptomatic hepatomegaly and the postmortem finding of multiple liver and brain cavernomas, liver ultrasonography was performed on all members of the family. Liver angioma was detected in two subjects from the second and third generations. Retinal angioma was detected in one patient with quadrantanopsia. (a) This association of brain, liver and retinal angiomas had not been reported in the past; (b) the significant radiological findings contrast sharply with the relatively benign clinical picture; and (c) expression of the disease varies in consecutive generations, with an increasingly early onset. The authors emphasize the need for neuroradiological studies using CT and MR, liver ultrasonography, ophthalmologic evaluation, and genetic evaluation for CCA patients and their relations.     

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     

立体定向显微手术摘除脑内海绵状血管瘤

目的脑内海绵状血管瘤病灶多较小,位置较深,传统手术或难以准确定位或可造成较大的脑损伤。本将探讨定向开颅术在脑内海绵状血管瘤的应用。方法以立体定向显微脑手术除了９例位于脑深部的小型（直径０．８－１．４ｃｍ）海绵状血管瘤。手术技术主要包括计算机体层摄影（ＣＴ）立体定位,小骨窗开颅和标准显微外科病灶切除。结果９例病人的海绵状血管瘤得以全切,而未造成术后严重神经功能障碍。全部病人在６－１７个月的术后随     

Putaminal cavernous angioma presenting with hemichorea.

We report on a 63-year-old man presenting with hemichorea on his right side. Magnetic resonance imaging revealed a left putaminal cavernoma. To our knowledge this is the first report of such a case caused by contralateral putaminal cavernous angioma.     

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。     

Therapeutical considerations in patients with intracranial venous angiomas

The clinical presentation of intracranial venous angiomas are usually headache, seizures or dizziness. Very often these anomalies are found incidentally on magnetic resonance imaging (MRI). We reviewed 35 patients, which were examined in our department between 1994 and 2000. Only one patient became symptomatic with an intracranial haematoma, which was removed surgically. In three patients an associated cavernous angioma was found, which was removed successfully with preservation of the coexisting venous angioma. There is no indication in operating a venous angioma because the risk of postoperative deterioration caused by venous infarction is high. When removing cavernous angiomas the associated venous angioma has to be preserved.     

Total removal of an intramedullary cavernous angioma by transthoracic approach

Intramedullary cavernous angiomas are rare vascular malformations; all published cases have been surgically approached posteriorly by standard laminectomy. We describe the case of a 63-year-old man with an intramedullary cavernous angioma, anteriorly located in the thoracic spinal cord. The angioma was operated on by transthoracic approach and totally removed.     

Hemichorea due to a cavernous angioma of the caudate. Case report of an aged patient

A 75 year old man presented left hemichorea due to a cavernous angioma of the head of the contralateral caudate. Cavernous angiomas of the basal ganglia are an infrequent cause of hemichorea especially in older subjects but should be considered in the differential diagnosis.

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Sommario Viene presentato il caso di un paziente di 75 anni affetto da un'emicorea secondaria ad una lesione della testa del caudato controlaterale. Gli angiomi cavernosi sono una causa rara di emicorea specialmente nelle persone anziane. Il presente caso però suggerisce che debbano, essere considerati nella diagnosi differenziale dell'emicorea.

     

Orthostatic hypotension associated with dorsal medullary cavernous angioma

Background – Orthostatic hypotension (OH) is a rare manifestation of medulla oblongata lesions that may be because of interruption of descending sympathoexcitatory axons. Aims – To illustrate the location of a medullary lesion that produced OH following resection in relationship to the location of putative sympathoexcitatory pathways. Method – A case with dorsal medullary cavernous angioma presenting with OH is described. The possible localization of lesion was compared with distribution of tyrosine hydroxylase (TH)‐immunoreactive axons in a comparable section of the medulla of a control brain. Results – The patient had marked OH after partial removal of the cavernous angioma. Biopsy confirmed the diagnosis. The magnetic resonance imaging location of the lesion overlapped that of TH‐immunoreactive axons of the medullary transtegmental tract. Conclusions – A restricted lesion of medullary lesion interrupting the catecholaminergic transtegmental tract arising from the sympathoexcitatory C1 neurons of the rostral ventrolateral medulla could result in severe OH.     

Neonatal cavernous angioma located in the basal ganglia with profuse intraoperative bleeding

Case report A rare case of congenital cavernous angioma detected during pregnancy is described. The tumor was pointed out by ultrasound in a fetus at 39 weeks gestation. The male baby was delivered by cesarean section. Computed tomography and magnetic resonance imaging revealed a tumor in the left basal ganglia. Because the tumor gradually enlarged and right hemiparesis became evident, a decision was made to remove the tumor. Because of profuse intraoperative bleeding, surgical total removal was not accomplished. Histopathological specimens revealed cavernous angioma. The patient was treated postoperatively with 30.4 Gy of local irradiation. His right hemiparesis improved and the tumor gradually decreased in size. Discussion The literatures are reviewed and discussed about clinical features and management controversies of this rare tumor.     

Cavernous angioma as a rare neuroradiologic finding in the cavernous sinus

We report the case of a 56-year-old female with a pathologically confirmed cavernous angioma of the cavernous sinus. There are only a few reports on cavernous sinus angiomas in the literature. In contrast to typical intracerebral cavernous angiomas, these lesions are characterized by strong contrast enhancement on computed tomography and magnetic resonance imaging. In spite of the problematic location within the cavernous sinus, these angiomas can be completely resected without additional neurologic deficits. The clinical course of the patient and the unusual neuroradiologic imaging findings, as well as the cases from the literature are discussed.     

神经导航在颅内海绵状血管瘤手术中的应用(附9例报告)

目的评价神经导航在颅内海绵状血瘤(CA)手术中的应用。方法分析应用德国Zeiss神经导航系统对9例颅内CA手术的治疗效果。结果病灶均成功切除，无手术死亡。结论应用神经导航系统可以精确定位，设计最佳手术入路，缩短手术时间，减少医源性损伤和于术并发症。     

以癫痫起病的幕上脑海绵状血管瘤的治疗

目的 探讨以癫痫起病的幕上脑海绵状血管瘤（CCA）的治疗方法及影响术后癫痫控制率的相关因素。方法 2008年1月至2014年1月收治以癫痫起病的幕上CCA患者76例,其中药物组（不愿接受手术者）25例,口服抗癫痫药物治疗。显微手术组51例,显微手术切除病灶及致痫灶,术后继续抗癫痫药物治疗。所有患者出院后随访1~5年,按Engel分级评定疗效,Engel分级Ⅰ~Ⅱ级为疗效满意。结果 显微手术组疗效满意45例（88.2%）,药物治疗组癫痫疗效10例（40.0%）,两组疗效满意率差异有统计学意义（P<0.05）。癫痫病程≤1年的患者术后疗效满意率明显高于癫痫病程>1年的患者（P<0.05）。>结论 以癫痫起病的幕上CCA显微手术治疗效果良好,建议尽早手术治疗;影响术后癫痫控制率的因素为癫痫的病程。     

椎管内海绵状血管瘤手术治疗及其疗效分析

目的 探讨椎管内海绵状血管瘤（CA）的诊断、鉴别诊断、手术治疗及其疗效。方法 回顾性分析本院1993-2001年收治的18例椎管内CA，其中硬脊膜外7例，髓内11例。结果 均行手术治疗，17例行镜下或肉眼全切除术，1例行次全切除。术后随访6-96个月，17例术后神经功能障碍明显改善，其中12例恢复正常工作和学习。5例生活能自理；1例术后神经功能障碍无明显改善，生活需他人照顾。结论 椎管内海绵状血管瘤应早期诊断，早期治疗，应尽可能行肿瘤全切除术，以减少复发。     

脑内海绵状血管瘤的伽玛刀治疗(附85例报告)

目的评价脑内海绵状血管瘤伽玛刀(γ-刀)治疗的效果。方法105例脑内海绵状血管瘤进行γ-刀治疗,病灶直径大小0.4￣1.8cm(平均1.2cm)。采用多个等中心照射,周边剂量12￣15Gy,平均13Gy,40%￣60%的等剂量曲线包绕病灶,中心剂量20￣30Gy,平均24Gy。85例获得随访。结果随访期6￣72个月(平均36个月)。5.8%(5/85)再出血;31%(26/85)病灶缩小,69%(59/85)无变化;20%(17/85)病灶周围脑水肿,经治疗后脑水肿明显减轻好转。50%(15/30)癫痫发作频率和程度减轻。41%(35/85)临床症状改善,40%(34/85)症状无明显改善,19%(16/85)症状加重,17.6%(15/85)经治疗后恢复,1例遗留明显肢体活动障碍。结论当海绵状血管瘤位于主要功能区或深部组织,手术风险极大时,可选择γ-刀治疗;控制周边剂量<15Gy,可以获得较好的疗效和较低的并发症。     

颅骨海绵状血管瘤影像及病理分析

目的探讨颅骨海绵状血管瘤的影像、病理学特点及手术疗效,以提高对该病的诊治。方法回顾性分析10例经病理证实的颅骨海绵状血管瘤的临床及影像学资料及手术疗效,并复习文献。结果 8例位于额骨,顶骨及枕骨各1例,X线平片表现为边界清楚的类圆形低密度影。CT平扫表现为高密度或稍高密度,骨窗位常呈特征性的蜂窝状或日光放射状的溶骨性改变。MRI信号特点复杂,MRI平扫表现为高低信号混杂影为主,增强后不均匀强化。9例患者行病变扩大切除术加钛网修补术,1例行病变扩大切除术。肉眼见病变呈暗红色,突出颅骨表面;镜下见大量囊状扩张的壁薄血管,血管腔内被血细胞填充,组织分化成熟。随访3至24个月无复发。结论颅骨海绵状血管瘤影像学表现具有一定特征性,对于单发病灶,行扩大整块切除加一期颅骨缺损修补术治疗效果满意。     

海绵窦海绵状血管瘤的手术治疗

目的 探讨海绵窦海绵状血管瘤的治疗方法.方法 对我院2000年6月至2010年7月以来收治的13例海绵窦海绵状血管瘤的临床资料进行回顾性分析.结果 2例患者仅行开颅探查术,其余11例行手术切除,肿瘤均完全切除,无手术死亡病例,术后视力改善者3例,5例出现动眼神经麻痹,其中3例伴有外展神经麻痹,4例出现手术同侧面部麻木.结论 选择合适的手术方式可成功切除海绵窦海绵状血管瘤并减少神经损伤的并发症.

Abstract：

Objective To investigate the treatment of cavernous sinus hemangioma Method The clinical data of 13 cavernous sinus hemangioma patients from June 2000 to July 2010 were analyzed. Results Exploratory craniotomy was used for 2 patients,the tumor was totally removed in 11 patients. There was no postoperative death. There were 3 patients having improved eyesight. The postoperative complications included oculomotor nerve palsy in 5 patients including abducens nerve palsy in 3 patients, and facial paralysis of ipsilateral side in 4 patients. Conclusions Through reasonable approach,cavernous sinus hemangioma could be totally removed with low complication rate.     

Intramedullary spinal cord cavernous angioma in children: case report and literature review

Introduction Intramedullary cavernous angiomas (ImCA) of the spinal cord are very uncommon malformations especially in the pediatric population where only ten cases have yet been reported within the available literature. Case report In this paper, the authors report the case of a 12-year-old girl presenting with a T11 level hematomyelia because of a cavernous angioma. Microsurgical excision was performed with good clinical outcome and no magnetic resonance imaging evidence of residual cavernoma 30 months later. Discussion Despite the small number of cases reported in children, this one contributes to the literature identifying special features of presentation and management of ImCA for pediatric patients. Because a higher risk of recurrent bleeding has been demonstrated for ImCA, with dramatic clinical consequences, microsurgical removal remains the only definitive treatment.     

海绵窦MRI解剖与三维重建研究

目的研究海绵窦MRI影像解剖学特点,对颈内动脉和垂体、垂体腺瘤实施MRI三维重建。方法对25例海绵窦正常者,分别进行平扫、常规增强扫描和动态增强扫描,采用eFilm软件对MRI影像资料进行研究;在海绵窦MRI解剖结构辨别的基础上,采用StealthStation导航系统三维重建软件,对2例病人的颈内动脉和垂体、垂体腺瘤进行三维重建。结果①动态增强扫描中期对海绵窦的结构显示最佳。②海绵窦外侧壁脑神经在冠状位上有良好的显示。③采用eFilm软件的测量结果:海绵窦段颈内动脉间距离为(16.6±4.3)mm,床突上段颈内动脉间距离为(13.8±3.3)mm,颈内动脉与垂体的距离为(2.9±0.9)mm,垂体上下径、左右径、前后径分别为(4.8±1.9)mm、(15.8±5.7)mm、(9.6±2.8)mm。④利用三维重建软件,可成功实施对颈内动脉和垂体、垂体腺瘤的三维重建。结论海绵窦MRI解剖学研究与三维重建对指导海绵窦区影像学诊断和海绵窦区手术具有重要意义。