Management of cerebral cavernous angiomas in children presenting with seizures

Until recently intracranial cavernous angiomas were thought to be rare vascular malformations that usually presented in adulthood as an intracerebral hemorrhage, an expanding mass lesion, or with the new onset of seizures. Prior to the advent of computed tomography (CT), and more recently magnetic resonance imaging (MRI), their diagnosis in childhood was extremely rare. However, the CT and MRI features of cavernous angioma are quite distinctive and allow early diagnosis and treatment. Advances in surgical techniques permit successful removal of these potentially devastating lesions and amelioration of the associated seizure disorder. Seven children with cerebral cavernous angiomas have been treated at the Children's Hospital Medical Center since 1980. Six children presented with seizures and one with an intracerebral hemorrhage. All had characteristic findings on CT and/or MRI and underwent surgical excision of symptomatic lesions. Intraoperative sonography, electrocorticography, and cortical mapping were used when indicated and were found to be helpful in the surgical management of these patients. Our experience suggests that symptomatic cerebral cavernous angiomas in children are not as rare as previously thought and that surgical treatment using modern neurosurgical techniques is both safe and appropriate and can be helpful in the management of associated seizures.     

脑内海绵状血管瘤的CT及MRI诊断

目的探讨CT及MRI对脑内海绵状血管瘤(cavernous angiomas,CA)的表现和诊断价值。方法收集资料完整经手术病理证实的36例脑内CA患者的CT及MRI资料,重点分析其影像表现特征。结果 CA可位于脑内任何部位,单发病灶多见,周围无或轻度水肿,无占位效应,CT平扫为稍高密度影,钙化占68.7%,增强扫描大都无强化;MRI表现为桑椹状混杂高信号,周围有云絮状低信号环,增强后病灶大都无强化。结论脑内海绵状血管瘤的MRI表现有特异性,MRI对脑实质内CA的检出率优于CT,特别是MRI的T2WI像有助于明确诊断。     

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。     

Progressive vision loss. A rare manifestation of familial cavernous angiomas.

We studied four generations of a family in which the index case had progressive loss of vision secondary to a cavernous angioma of the optic nerve and chiasm. Magnetic resonance imaging of the brain revealed multiple, asymptomatic intracerebral cavernous angiomas. Brain magnetic resonance imaging scans of the family members revealed multiple cavernous angiomas in the brother and paternal grandfather, but none in the father or his siblings. Autopsy reports of the paternal great grandfather noted multiple cavernous angiomas in the brain and abdominal viscera. We believe our patient to be the sixth reported case in which a cavernous angioma involved the optic chiasm and optic nerve. Magnetic resonance imaging is a sensitive and specific method of detecting cavernous angiomas. Cavernous angiomas have an autosomal dominant pattern of inheritance with variable penetrance. Surgical intervention in patients with symptomatic cavernous angiomas depends on the location and size of the lesion and associated surgical risks.     

Intracranial extra-axial cavernous (HEM) angiomas: tumors or vascular malformations?

INTRODUCTION: Extra-axial cavernous hemangiomas or angiomas [(hem)angiomas] are relatively rare lesions. They usually arise in relation to the dura mater intracranially or at the spinal level. Most of these lesions have been described in the middle cranial fossa at level of the cavernous sinus. Controversy still exists regarding the exact nature of these extra-axial cavernous angiomas: vascular tumor versus vascular malformation similar to intra-axial cavernomas. It has been suggested that they could represent an adult form of the hemangioma of infancy. Extra-axial cavernous (hem)angiomas often mimic meningiomas and their clinical behavior and imaging appearance are quite different than those of intra-axial cavernous angiomas. SUBJECTS AND METHODS: Five patients ranging in age from 24 to 63 years with a histologically proven dural cavernous angioma were retrospectively included. The lesions were located at level of the cavernous sinus (4 cases) and falx. CT and MR scans were performed in all cases and angiography in three patients. Four patients underwent surgery and a biopsy was performed in one case. One lesion was embolized before biopsy. Histology was available in all patients. RESULTS: In the operated patients, the lesion was totally resected in 2 cases and partially in the other 2. No postsurgical complication was noted. Histology revealed a vascular malformation composed of large vascular channels lined by flat endothelium and separated by fibroconnective tissue stroma. The pathological diagnosis was cavernous angioma. CONCLUSION: On the basis of the analysis of the literature and of our cases, intra-cranial extra-cerebral so-called cavernous (hem)angiomas present findings suggesting that they are vascular malformative lesions, analogous to the intra-axial cavernous angioma. A relationship with the hemangiomas of infancy seems unlikely. Correct terms for extra-cerebral cavernous (hem)angiomas are cavernoma, cavernous angioma, or venous vascular malformation of cavernous type . The term hemangioma should be avoided and reserved for the common vascular tumor of infancy.     

脑干海绵状血管瘤影像学

目的：结合临床表现特点，对４８例有组织学结果的脑干海绵状血管瘤的影像学表现进行分析。方法：４８例依发作方式分为两种类型。一类表现为突然发作的颅神经及传导束症状，部分为反复类似发作；另一种为静止性发作。所有病人均进行了ＣＴ及ＭＲＩ检查。并通过手术得到病理证实。结果：所有病例ＣＴ及ＭＲＩ均表现出海绵状血管瘤的特点。在非增强ＣＴ扫描表现为等或稍高密度，在增强ＣＴ扫描，病灶表现为轻至中度强化，水肿及占位效应均不明显。ＭＲＩ扫描表现为高信号或混杂信号，代表不同时相的出血及胶质样变。部分病例可见典型的桑椹样或网络样结构。除１８例病灶位于延髓或中脑外，大多病灶位于桥脑。３例在梯度回波扫描可见多发病灶。有１例组织学可见海绵状血管瘤的血管腔内存在弹性纤维；４例可见引流静脉及供血动脉。结论：桥脑是脑干海绵状血管瘤最常见部位；影像学特别是ＭＲＩ表现与病程及病变构成有关；部分组织病理学具有与其它血管畸形重叠的特点。手术彻底切除病灶对防止复发非常重要。     

Familial cavernous angioma without clinical haemorrhage

The incidence and natural history of cerebral cavernous malformations remain poorly defined. MRI now provides anaccurate means of diagnosis and follow-up of these lesions. Hereditary cavernous angiomata have been reported in several racial groups, revealing asymptomatic family members with significant numbers of lesions. We report a family of Anglo-Saxon origin with nine members among three generations affected via an autosomal dominant mode of inheritance. MRI of seven affected family members revealed 74 lesions. Autopsy of two further family' members who died of unrelated causes also demonstrated the presence of cavernous angiomata. No lesion was associated with anomalous venous drainage. Two affected family members had seizures. Although six lesions exhibited the characteristic mixed intensity T2 spin echo signal suggesting haemorrhage, no lesion has caused a clinically apparent haemorrhage. This family offers a unique perspective of the natural history of this disease. No clinically apparent haemorrhage has occurred in 2418 lesion years. The benign nature of these lesions suggests that, in clinically unruptured familial cavernous angiomas, without accompanying anomalous venous drainage, a conservative approach may be warranted irrespective of their location.     

颅内海绵状血管瘤的CT和MRI诊断

目的探讨颅内海绵状血管瘤的CT和MRI表现及诊断价值。方法搜集60例颅内海绵状血管瘤的CT和MRI影像资料,CT检查37例,MRI检查53例,CT和MRI检查30例,其中脑内型海绵状血管瘤57例,经手术病理证实42例,影像资料典型15例,经伽玛刀治疗随访证实;脑外型海绵状血管瘤3例,均经手术病理治疗证实。结果脑内型海绵状血管瘤可位于脑内任何部位,单发病灶多见,无明显占位效应,周围无或轻度水肿。CT检查的全部病例呈稍高及混杂密度影32例,增强扫描大都无强化;MRI检查T2WI表现为"桑葚状"混杂高信号,周围有云絮状低信号环,增强后病灶仅少数轻度强化。脑外型病灶位于中颅窝、鞍旁,MRI呈类似哑铃形或类圆形较均匀的稍长T1、明显长T2信号,增强扫描呈明显均匀强化。结论脑内与脑外型海绵状血管瘤的CT和MRI表现具有一定特征,MRI优于CT像,特别是MRI的T2WI像有助于明确诊断。     

显微手术治疗脑内型海绵状血管瘤43例

目的:探讨脑内型海绵状血管瘤(CA)的诊断和显微手术治疗效果。方法:回顾性分析2007年5月至2010年10月收治的43例经病理证实的脑内型海绵状血管瘤患者。结果:全部病例术前均行头颅MRI或CT检查,其中30例MRI检查结果为海绵状血管瘤,与病理结果相符,4例MRI检查结果与病理结果不相符。其他9例CT检查结果为脑内血肿。显微手术全部切除海绵状血管瘤,手术无死亡,效果满意。结论:MRI对脑内型海绵状血管瘤的诊断具有较高的敏感度和特异度。对于有明显临床表现的脑内型海绵状血管瘤患者,采用显微手术切除病灶,可获得良好的治疗效果。     

MRI diagnosis of brainstem cavernous angiomas presenting as tumours.

We report experience with 11 patients misdiagnosed for years, on the basis of computed tomography (CT) and angiography, as harbouring brainstem tumours in whom magnetic resonance imaging (MRI) demonstrated cavernous angiomas. Seven had undergone external irradiation, 2 had a ventriculo-peritoneal shunt, 2 developed aseptic femur necrosis following corticosteroid treatment, 1 had undergone a biopsy with a pathological diagnosis of glioma. CT had depicted ill-defined, hyperdense, faintly enhancing lesions. Angiography was normal, or showed an avascular mass or subtle venous pooling. MRI delineated discrete lesions, typical of cavernous angiomas, with a mixed hyperintense, reticulated, central core surrounded by a hypointense rim. Six patients subsequently underwent stereotactic radiosurgery without changes in clinical status or lesion. Although hemorrhagic neoplasms may mimic the clinical course and MRI appearance of cavernous angiomas, MRI is useful in the diagnosis of brainstem cavernous angiomas and should be performed in patients with suspected brainstem tumours.     

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.     

Familial cavernous malformations of the central nervous system and retina

We studied a family in which 4 persons from three generations had multiple cavernous malformations ("angiomas") of the central nervous system (CNS) and/or retina and found accounts in the literature of sixteen other families with this condition. In these families with familial cavernous malformation of the CNS and retina, 92% of pathologically documented vascular malformations were cavernous; 50% of those subjects affected had multiple CNS and/or retinal vascular malformations and 68% (excluding probands) were symptomatic. Cutaneous vascular lesions were an inconsistant manifestation. Autosomal dominant inheritance with high penetrance was confirmed.     

Familial cavernous hemangioma with atypical neuroimaging

Three members of the same family were studied, all of whom had multiple intracerebral cavernous angiomas for which a dominant autosomal inheritance was hypothesised. The proband suffered from headaches, and physical examination revealed evident right hemiparesis. The second case started with a hemorrhagic cerebral stroke and the third was asymptomatic on neurological examination. Nuclear magnetic resonance (NMR), performed in two of the three cases, showed lesions whose number and extent were not radiologically characteristic of cavernous angioma. A cerebral biopsy of the proband enabled the diagnosis to be made. Despite the recent introduction of NMR, the nosological classification of familial forms can be difficult when the radiological lesions are atypical. In such cases, cerebral biopsy is not only a valid diagnostic aid, but is also indispensable for obtaining adequate genetic information.This study has been presented at the 30th Italian National Neuropathology Congress. St. Vincent (Val d'Aosta), 20–22 June 1994.     

Surgical treatment of brain stem lesions with reference to cavernous angioma]

The surgical indications for localized brain stem lesions were evaluated retrospectively through the clinical results of 14 patients: 5 cavernous angiomas and 9 gliomas. Cavernous angiomas were located in fourth ventricle floor (2 cases), in dorsal midbrain (1 case), in right cerebellar peduncle (1 case), and in medulla oblongata (1 case). Those cases had direct surgery because of relapse of clinical symptoms and enlargement of the lesions on follow-up MR imagings. Each lesion was extirpated totally. Consequently, the majority of neurological deficits before operation improved. Therefore, radical extirpation in brain stem cavernous angioma was strongly recommended. Also, total, subtotal resection was performed for gliomas localized in brain stem: 2 low grade astrocytomas, 3 malignant astrocytomas, 3 plexus papillomas, and 1 ependymoma. Most of cases improved without new neurological deficits after surgery. In addition, MR imaging was considered to be essential to accurate diagnosis and surgical strategies for brain stem lesions.     

Predictive factors for intracerebral hemorrhage in patients with cavernous angiomas

OBJECTIVES: Prediction of intracerebral hemorrhage (ICH) in patients with cavernous angiomas is not totally elucidated. The aims of our study were to determine the rate of cerebral hemorrhage, its associated factors, and the clinical outcome in patients with cavernous angiomas in a Hispanic population. METHODS: We studied 133 patients with cavernous angiomas. The patients were classified into two groups depending on whether they presented an ICH. A comparative analysis of demographics and clinical data, neuroimaging characteristics, and prognosis was carried out in patients with and without hemorrhage. The hemorrhage rate (expressed as the percentage per patient per year) was also estimated. RESULTS: Seventy-eight patients (59%) had hemorrhage. Non-lobar location of angiomas was associated with hemorrhage [OR 4.82 (CI 95% 2.17-10.73; p=<0.001)]. In contrast, factors associated with a decreased risk of hemorrhage were a family history of epilepsy [OR 0.30 (CI 95% 0.10-0.79; p=0.016)] and lobar location of the angiomas [OR 0.21 (CI 95% 0.09-0.46; p=<0.001)]. The hemorrhagic rate of 1.71% per patient per year was influenced by the location. It was only 1.22% per patient per year in lobar angiomas and 2.33, 2.39, and 2.82% per patient per year for brainstem, cerebellum, and deep hemispheric angiomas, respectively. CONCLUSIONS: The non-lobar location of cavernous angiomas gives a higher risk of hemorrhage in our Mexican mestizo population, without the hemorrhage being related to either age or sex.     

显微手术治疗小脑海绵状血管瘤

目的总结小脑海绵状血管瘤的临床表现及手术治疗效果。方法对12例均经手术切除和病理证实的小脑海绵状血管瘤进行回顾性分析。结果11例急性起病,表现为小脑自发性出血。慢性起病1例,表现为渐进性共济失调、行走不稳。头颅MRI平扫与增强多表现为T1高信号,T2高或混杂信号,病灶周围有环形低信号带。磁敏感加权成像序列（SWI）更有助于诊断。12例均采用显微手术治疗,所有病灶均完整切除,疗效满意。结论自发性出血是本病的主要症状,多有共济失调等小脑受损体征。MRI具有较高的诊断特异性,手术是处理小脑海绵状血管瘤安全和有效的首选方法。     

Cavernous angiomas in the differential diagnosis of cerebrovascular malformations

Cavernous angiomas, although rare, represent a clinical and a neuroradiological challenge in the differential diagnosis of cerebrovascular malformations. We report about three cases with a total of seven cavernous angiomas. Clinical features include intracerebral hemorrhage, epileptic seizures and focal neurological signs. Diagnosis is based on typical findings in MRI in combination with an angiography presenting a normal vascular situation or an avascular mass lesion, whereas CT-scan shows nonspecific features. Surgical removal is generally recommended, but could not be done in our cases. A histological verification of a clinically typical diagnosis is not mandatory. Indication for proton beam irradiation still has to be discussed. A definite therapeutical approach will have to consider the natural history in a larger number of cases.     

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.     

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 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.