1/42. Extradural spinal cavernous haemangioma: case report and review of the literature.Cavernous haemangiomas (cavernomas) are uncommon vascular malformations of the central nervous system (CNS). They occur in both sporadic and familial forms and may involve any site in the CNS. Spinal cavernomas are less common than intracerebral lesion s, and examples in the spinal epidural space are rare. A case of a solitary sporadic spinal extradural cavernoma in a 41 year old male which presented as progressive lower limb numbness and weakness is reported. The literature regarding spinal cavernomas is reviewed and the symptomatology, diagnostic evaluation, pathology, management and prognosis of these lesions are discussed.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
2/42. Rapid growth in a cavernoma.The availability of magnetic resonance imaging has greatly increased the detection of cavernous malformations of the central nervous system in both symptomatic and asymptomatic patients. These lesions may be responsible for previously unexplained neurological events or may even have been incorrectly diagnosed. We describe a patient presenting with focal neurological signs in whom an initial diagnosis of malignant glioma had been made. Following excision, the pathological diagnosis was cavernoma. This vascular lesion has continued to show rapid growth and aggressive behaviour despite multiple surgical resections. The indications for operative and non-operative intervention will be discussed.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
3/42. Suprasellar cavernous malformation presenting with extensive subarachnoid hemorrhage.Cavernous malformations are usually intraparenchymal, extra-axial lesions being uncommon. They have very rarely been reported as the cause of subarachnoid hemorrhage. We present a case of hemorrhage related to a cavernous malformation, unusual in two ways. First, it is rare for an intracranial cavernous malformation to present with massive subarachnoid hemorrhage. Secondly, this cavernous malformation lay in the chiasmatic cistern.- - - - - - - - - - ranking = 8keywords = malformation (Clic here for more details about this article) |
4/42. Neoplastic growth of cerebral cavernous malformation presenting with impending cerebral herniation: a case report and review of the literature on de novo growth of cavernomas.BACKGROUND: Cerebral cavernomas are rare vascular anomalies and their expansile growth has been considered to be mainly due to recurrent hemorrhages. They are not generally reported to show aggressive behavior.CASE DESCRIPTION: A 27-year-old male presented with headache, visual disturbances, and a 17-year history of seizures. He was known to have a temporal lobe lesion on CT scan, consistent with a diagnosis of cavernous malformation but with no relevant family history. Serial clinical and radiological follow-up revealed a progressive increase in the size of the lesion with formation of a growing cyst of 7 cm in diameter, which produced mass effect, resulting in the clinical picture of cerebral herniation. The patient underwent emergency surgical resection with symptomatic relief. There was no evidence of significant hemorrhage at surgery.CONCLUSION: Cavernous malformations can show expansile growth without any evidence of a presaging hemorrhagic event and, in the manner of a neoplastic lesion, present with raised intracranial pressure and cerebral herniation.- - - - - - - - - - ranking = 6keywords = malformation (Clic here for more details about this article) |
5/42. The juxtaposition of a capillary telangiectasia, cavernous malformation, and developmental venous anomaly in the brainstem of a single patient: case report.OBJECTIVE AND IMPORTANCE: Capillary telangiectasias, cavernous malformations, and developmental venous anomalies are all vascular malformations that occur on the capillary-venous side of the cerebral circulation. The associations of capillary telangiectasias with venous malformations, cavernous malformations with venous malformations, and capillary telangiectasias with cavernous malformations have all been described; however, the association of all three lesions in a single patient is extremely rare. CLINICAL PRESENTATION: A 52 year-old Caucasian woman presented to our clinic with an extended history of confusion, distorted visual perceptions, photophobia, neck pain, swallowing problems, and poor balance. The patient's examination was remarkable for difficulty concentrating, mild rotatory nystagmus, subtle decreased sensation over the left side of the face and body, and brisk reflexes. review of the patient's magnetic resonance imaging examination demonstrated a cavernous malformation, a capillary telangiectasia, and a developmental venous anomaly located adjacent to one another in the brainstem. INTERVENTION: Given the patient's complex constellation of symptoms and relatively mild neurological findings, it was difficult to ascribe any one of them to a specific vascular malformation. Conservative management of this patient's vascular malformations was decided upon. CONCLUSION: Juxtaposition of these three different vascular lesions in the brainstem of an otherwise normal individual suggests a relationship among them. Although there are several theories that link similar associations through physiological mechanisms such as venous hypertension, we propose that a developmental event disrupting local capillary-venous pattern formation is a plausible alternative.- - - - - - - - - - ranking = 13keywords = malformation (Clic here for more details about this article) |
6/42. Vertebral hemangiomas associated with familial cerebral cavernous malformation: segmental disease expression. Case report.Recently, several groups of authors have described mutations in the Krev interaction-trapped 1 [corrected] (KRIT1) gene in families in whom cerebral cavernous malformations (CCMs) are present. In a number of French kindreds harboring familial CCMs, cutaneous as well as cerebral manifestations of this autosomal-dominant disorder were demonstrated. Involvement of other tissues has been poorly described. The authors present the proband, in an affected family with a previously reported KRIT1 mutation, in whom vertebral hemangiomas in addition to cerebral and cutaneous lesions were found. One of the vertebral lesions was associated with a large cutaneous lesion. This combination of vertebral and overlying cutaneous lesions suggests segmental disease expression as the result of a second hit during development, implying loss of function as the relevant molecular pathogenic mechanism. This case illustrates that tissue involvement outside the nervous system must be considered when treating patients with familial CCMs.- - - - - - - - - - ranking = 5keywords = malformation (Clic here for more details about this article) |
7/42. 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.- - - - - - - - - - ranking = 7keywords = malformation (Clic here for more details about this article) |
8/42. third ventricle cavernoma associated with venous angioma. Case report and review of the literature.A case of third ventricle cavernous angioma associated with venous angioma is reported. By a transventricular approach, the cavernoma was totally removed with successful preservation of the venous malformation. After review of the literature, the clinical characteristics and the surgical approach to third ventricle cavernous angioma are discussed; the importance of preservation of associated venous angioma is also underlined.- - - - - - - - - - ranking = 1keywords = malformation (Clic here for more details about this article) |
9/42. Giant cavernous malformation of the occipital lobe.A 15-year-old boy who developed severe headaches and an incomplete homonymous hemianopia was found to have a large, well-circumscribed, multilobulated intracranial mass in the contralateral occipital lobe. The initial impression was that of a low-grade glioma or a vascular malformation. When the lesion increased in size and complexity, concern arose about the possibility of a malignant glioma. Upon craniotomy, it proved to be a giant cerebral cavernous malformation. This case is remarkable in that most cavernous malformations do not become symptomatic before the third decade of life and rarely attain such a large size.- - - - - - - - - - ranking = 7keywords = malformation (Clic here for more details about this article) |
10/42. Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test.Familial cerebral cavernous malformation (CCM) exhibits autosomal dominant inheritance and is characterized by vascular disorders of the brain, which can lead to seizures, focal neurological deficits, hemorrhagic stroke, and migraine. Three CCM loci have been mapped, but the gene for only one locus--KRIT1 coding for Krev-1/rap1 interaction trapped 1 (KRIT1) protein, which is responsible for more than 40% of familial cases--has been identified. To date, a total of 72 mutations have been described, with one founder effect in the Mexican/Hispanic community. We report the case of an Italian family with CCM that has a novel KRIT1 gene mutation leading to a truncated KRIT1 protein. The protein truncation test (PTT) has been used as a rapid method of identifying germline mutations in the KRIT1 gene.- - - - - - - - - - ranking = 5keywords = malformation (Clic here for more details about this article) |
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