A Case Report and Overview of Familial Cerebral Cavernous Malformation Pathogenesis in an Adult Patient

OBJECTIVE We present a case of a 39 year-old woman who presented with a solitary cavernous malformation hemorrhage without any other lesions, and subsequently presented several months later with a new hemorrhage from a de novo lesion. We discuss mechanisms of paradominant inheritance and haploinsufficiency to describe phenotype expression of familial cavernous malformations. CASE DESCRIPTION The patient presented with unremitting headaches, who had a known history of a solitary cerebral cavernous malformation (CCM) for which she underwent resection several months prior with no evidence of any other CCM lesions seen on post-operative MRI. She has no history of whole brain radiation, family history of cavernous malformations, or prior head trauma. During this hospital visit, she was found to have develop two new lesions in the left fronto-parietal lobe and cerebellum. She was treated with surgical resection of the left frontoparietal lesion, and recovered fully. It is of interest that a patient approaching her fourth decade of life would start to develop formation of multiple de novo cavernous malformations, especially with an absent family history. Paradominant Inheritance and haploinsufficiency are two proposed models of inheritance that can be related to this patient’s disease progression. CONCLUSION The case illustrates an atypical clinical course of a patient with familia

Familial multiple cavernous malformation syndrome : MR features in this uncommon but silent threat

Cerebral cavernous malformations (CCM) are vascular malformations in the brain and spinal cord. The familial form of cerebral cavernous malformation (FCCM) is uncommon. This autosomal dominant pathology mostly presents with seizures and focal neurological symptoms. Many persons affected by FCCM remain asymptomatic. However, acute hemorrhages may appear over time. MRI demonstrates multiple focal regions of susceptibility induced signal loss, well seen on gradient-echo sequences (GRE) or even better on susceptibility-weighted imaging (SWI). The presence of a single CCM – especially in young persons – without history of FCCM does not exclude this diagnosis. Some clinicians also advise an MRI of the spinal cord at the time of diagnosis to serve as a baseline and a control MRI of the brain every one to two years. MRI is certainly indicated in individuals with obvious new neurologic symptoms. Symptomatic siblings should also undergo an MRI of the brain to determine presence, size, and location of the lesions. Even in asymptomatic siblings, a screening MRI may be considered, as there may be an increased risk of hemorrhage, spontaneous or due to the use of certain medications; the knowledge of the presence and the type of these lesions are important. Surgical removal of a CCM may be justified to prevent a life-threatening hemorrhage. Control MRI may reveal the postoperative outcome

Maltese study of intracranial vascular malformations

Intracranial vascular malformations (IVMs) are responsible for 49% of spontaneous intraparenchymal brain haemorrhage in patients under 40 years of age. IVMs may cause recurrent intracranial bleeds, focal neurological deficits, seizures and chronic disability. The aim was to study the incidence of arterio-venous malformations (AVMs) and cerebral cavernous malformations (CCMs) in the Maltese population, assess mode of presentation, patterns of interventions, outcomes and follow-up of the lesions. A word search through the radiology information system was carried out, identifying cases of IVMs between 2008 and 2016 at Mater Dei Hospital. Brain or dural AVM, carotid-cavernous fistulae and CCM were included in the study. A participant was identified as the “incident” case at the time of the first diagnostic image. Interventions, follow-ups and complications were noted. 47 patients had AVM and 35 had CCM. The majority of patients with AVM presented with headaches. MRI was the prevalent imaging modality used at diagnosis. 42.6% of patients received radiosurgery. Haemorrhage was the commonest complication. In the CCM group, seizures and focal signs were common presenting symptoms. 65.7% of patients with a CCM were followed-up with further imaging within one year of diagnosis. The majority of patients received no intervention. IVMs may cause significant morbidity in patients and timely recognition is essential. The risk of haemorrhage in patients with AVMs is 1–4% per annum and this risk directs management. Presently, decisions regarding CCMs are made on a case-by-case basis. There is a need for guidelines, to help direct clinicians on the evidence-based management of IVMs.peer-reviewe

Cavernous malformations: surgical management in Belo Horizonte Santa Casa Hospital

The better understanding of the natural history of the cavernous malformations and the improvement of diagnostic methods and of microsurgical techniques have made the management of cavernous malformations possible through the conservative treatment, radiosurgery, and microsurgical resection. We present 33 cases operated at our service at Santa Casa Hospital, Belo Horizonte, from 1992 to 2001. Cortical and subcortical cavernomas manifested by epilepsy (57.5%) or mainly by hemorrhage (15.1%) were surgically approached, the deep lesions (basal ganglia, talamo and brain steam) represented 27.7% of our cases. They should only be operated when located near the pial or ependimary surface. the resection of spinal cord lesions (5.5%) and of deep brain lesions is also recommended when they present progressive focal deficit (13.8%) or recurrent episodes of hemorrhage (13.8%). Small and deep seated cavernomas that do not present bleeding must be conservatively treated. There has been no evident favourable result related to radiosurgery so far.Fac Ciencias Med Minas Gerais, Santa Casa Belo Horizonte, Belo Horizonte, MG, BrazilEscola Paulista Med, Belo Horizonte, MG, BrazilEscola Paulista Med, Belo Horizonte, MG, BrazilWeb of Scienc

Angiomas cavernosos cerebrales múltiples tipo IV en paciente de 7 años

This is a presentation of a clinical case of an unusual pathology due to multiple manifestation of benign cerebral vascular angiocavernomas. Generally described in the literature for the presence of unique masses at a supratentorial level. angiomas are also known as cavernous malformation, cavernous angiomas and cavernomas. This case is important because of the history of seizures, the performing of surgical biopsy and histopathological corroboration of the injuries. specific knowledge is required from the clinical, radiological and histopathological level for the diagnosis of such diseases, and through this case, is to contribute to the knowledge that not all cases of cerebral cavernomas have symptoms around second decade of life, but also a few may develop during childhood; as well as the existence of multiple brain lesions in the same patient. Objective: To contribute to the knowledge of vascular malformations –cerebral cavernous angioma- in childhood with an epidemiologically rare case that presents with nonspecific symptoms and is diagnosed by Gradient Echo MRI sequences. The purpose of creating this article and publish it is to allow closer study of a single case and thus contribute to the medical community that there are different forms of this disease, in addition, the symptoms of this disease can also occur, even strange it was, during childhood. Patients and methods: A surgical, radiological and pathological clinical study of an epidemiologically rare case of a 7 year old boy is performed. Results: Cavernous angiomas are rare vascular malformation. During childhood it may present with diverse clinical manifestations. Gradient Echo MRI sequences are the best method for diagnosis. Conclusions: There is not much literature about multi cerebral cavernous angiomas classified as type IV according to Zabramski criteria. Single lesions are certainly the most common cases. This patient presented multiple cavernous lesions. The clinical symptoms were highly variable, and seizures were the predominant clinical manifestation.Esta presentación de caso clínico trata de una patología inusual debida a la manifestación múltiple de angiocavernomas vasculares benignos cerebrales. Generalmente se describe en la literatura la presencia de estas masas de forma única a nivel supratentorial. Al angioma se lo denomina también malformación cavernosa, angioma cavernoso y cavernoma. Este caso es importante por lo antecedentes clínicos convulsivos, la realización de biopsia quirúrgica y corroboración histopatológica de dichas lesiones. Es necesario el conocimiento específico desde el ámbito clínico, radiológico e histopatológico para acertar al diagnóstico de este tipo de patologías, y por medio de este caso, se quiere contribuir al conocimiento de que no todos los casos de cavernomas cerebrales presentan sintomatología a partir de la segunda década de vida si no también algunos pocos pueden presentarse durante la infancia, así como también la existencia de múltiples lesiones cerebrales en un mismo paciente. Objetivo: Contribuir al conocimiento de una malformación vascular –cavernomas cerebrales– en la infancia con un caso epidemiológicamente raro, que se presenta con sintomatología inespecífica y es diagnosticado mediante secuencia de Gradiente de Eco en Resonancia Magnética. El propósito de crear este artículo y publicarlo es con el fin de permitir el estudio más cercano de un caso único y así contribuir con la comunidad médica que existen diferentes presentaciones de esta patología, además, los síntomas de esta enfermedad pueden presentarse también, por más extraño que fuese, durante la infancia. Pacientes y métodos: Se realiza un estudio clínico quirúrgico, radiológico y anatomopatológico, de un casos epidemiológicamente infrecuente en un niño de 7 años de edad. Resultados: Los cavernomas cerebrales constituyen una malformación vascular rara en la infancia, que pueden manifestarse con una clínica muy diversa. La secuencia de Gradiente de Eco en Resonancia Magnética es el mejor procedimiento para su diagnóstico. Conclusiones: Existe escasa literatura sobre la presentación múltiple de angiomas cavernosos cerebrales catalogados como tipo IV según los criterios de Zabramski. Las lesiones únicas sin duda son las más frecuentes. Este paciente presentó lesiones múltiples. La semiología clínica fue muy variable y las convulsiones fueron la manifestación clínica predominante

Cavernomas and brain cysts as treatment-related sequelae in survivors of pediatric brain tumors

Cavernomas after radiotherapy, developing in irradiated children treated for malignant brain tumors, are capillary malformations that are frquently asymptomatic and benign in their evolution. However, in some children this can lead to haemorrhage, which can cause symptoms and need a surgical intervention. Although there is increasing evidence of cavernoma as a possible long term sequelae after radiotherapy, there is still information needed concerning very long follow-up. Different groups studied this problem focusing on incidence and the lag time radiotherapy and the appearance of cavernomas. Results showed that the period can last a long time and the cumulative incidence increases over the years, but the numbers vary between the different publications. More recently researchers tried to compare several predictive factors with the incidence of cavernomas, such as age at radiotherapy, gender, kind of cancer and chemotherapy. No relation has been recorded except a growing incidence when the radiotherapy was started before the age of ten. Reason of the study : The observations reported until now comprised a very heterogenous cohort of patients. No study has ever been made with patients affected only by malignant brain tumors which are typical in a children. As for the studied predictive factors, no publication described the technical aspect of radiotherapy. Objectives: To study a population of pediatric patients children with only malignant brain tumors in order tp calculate the incidence of cavernomas after radiotherapy and their evolution over a longer period compared to so far published researches. To analyse known predictive factors such as age of children at the moment of the radiotherapy, gender, and kind of cancer. To study extensively the role technical aspects of radiotherapy in the occurrence of cavernomas. Methodology: Retrospective study of a group of 62 children irradiated at the CHUV (Lausanne, Switzerland) between 1975 and 2010 due to the following malignant brain cancers: medulloblastoma, ependymoma, PNET. The images of IRM post radiotherapy will be analysed by a neuroradiologist and a radiotherapist will interpret the radiotherapy data. Expected results: We expect to find relations between the incidence of cavernomas post radiotherapy and the predictive factors including different techniques of radiotherapy and consequently to define the best long-term follow up of the children at risk

Defining Meyer's loop-temporal lobe resections, visual field deficits and diffusion tensor tractography

Anterior temporal lobe resection is often complicated by superior quadrantic visual field deficits (VFDs). In some cases this can be severe enough to prohibit driving, even if a patient is free of seizures. These deficits are caused by damage to Meyer's loop of the optic radiation, which shows considerable heterogeneity in its anterior extent. This structure cannot be distinguished using clinical magnetic resonance imaging sequences. Diffusion tensor tractography is an advanced magnetic resonance imaging technique that enables the parcellation of white matter. Using seed voxels antero-lateral to the lateral geniculate nucleus, we applied this technique to 20 control subjects, and 21 postoperative patients. All patients had visual fields assessed with Goldmann perimetry at least three months after surgery. We measured the distance from the tip of Meyer's loop to the temporal pole and horn in all subjects. In addition, we measured the size of temporal lobe resection using postoperative T1-weighted images, and quantified VFDs. Nine patients suffered VFDs ranging from 22% to 87% of the contralateral superior quadrant. In patients, the range of distance from the tip of Meyer's loop to the temporal pole was 24–43 mm (mean 34 mm), and the range of distance from the tip of Meyer's loop to the temporal horn was –15 to +9 mm (mean 0 mm). In controls the range of distance from the tip of Meyer's loop to the temporal pole was 24–47 mm (mean 35 mm), and the range of distance from the tip of Meyer's loop to the temporal horn was –11 to +9 mm (mean 0 mm). Both quantitative and qualitative results were in accord with recent dissections of cadaveric brains, and analysis of postoperative VFDs and resection volumes. By applying a linear regression analysis we showed that both distance from the tip of Meyer's loop to the temporal pole and the size of resection were significant predictors of the postoperative VFDs. We conclude that there is considerable variation in the anterior extent of Meyer's loop. In view of this, diffusion tensor tractography of the optic radiation is a potentially useful method to assess an individual patient's risk of postoperative VFDs following anterior temporal lobe resection