Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 84
Filter
1.
EClinicalMedicine ; 71: 102557, 2024 May.
Article in English | MEDLINE | ID: mdl-38813441

ABSTRACT

Background: It was anticipated that recruitment to the Cavernous malformations: A Randomised Effectiveness (CARE) pilot randomised trial would be challenging. The trial compared medical management and surgery (neurosurgical resection or stereotactic radiosurgery) with medical management alone, for people with symptomatic cerebral cavernous malformation (ISRCTN41647111). Previous trials comparing surgical and medical management for intracranial vascular malformations failed to recruit to target. A QuinteT Recruitment Intervention was integrated during trial accrual, September 2021-April 2023 inclusive, to improve informed consent and recruitment. Methods: The QuinteT Recruitment Intervention combined iterative collection and analysis of quantitative data (28 trial site screening logs recording numbers/proportions screened, eligible, approached and randomised) and qualitative data (79 audio-recorded recruitment discussions, 19 interviews with healthcare professionals, 11 interviews with patients, 2 investigator workshops, and observations of study meetings, all subject to thematic, content or conversation analysis). We triangulated quantitative and qualitative data to identify barriers and facilitators to recruitment and how and why these arose. Working with the chief investigators and trial management group, we addressed barriers and facilitators with corresponding actions to improve informed consent and recruitment. Findings: Barriers identified included how usual care practices made equipoise challenging, multi-disciplinary teams sometimes overrode recruiter equipoise and logistical issues rendered symptomatic cavernoma diagnosis and assessment for stereotactic radiosurgery challenging. Facilitators identified included the preparedness of some neurosurgeons' to offer surgery to people otherwise offered medical management alone, multi-disciplinary team equipoise, and effective information provision presenting participation as a solution to equipoise regarding management. Actions, before and during recruitment, to improve inclusivity of site screening, approach and effectiveness of information provision resulted in 72 participants recruited following a 5-month extension, exceeding the target of 60 participants. Interpretation: QuinteT Recruitment Intervention insights revealed barriers and facilitators, enabling identification of remedial actions. Recruitment to a definitive trial would benefit from further training/support to encourage clinicians to be comfortable approaching patients to whom medical management is usually offered, and broadening the pool of neurosurgeons and multi-disciplinary team members prepared to offer surgery, particularly stereotactic radiosurgery. Funding: National Institute for Health and Care Research.

2.
Arterioscler Thromb Vasc Biol ; 44(6): 1246-1264, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38660801

ABSTRACT

BACKGROUND: Heterogeneity in the severity of cerebral cavernous malformations (CCMs) disease, including brain bleedings and thrombosis that cause neurological disabilities in patients, suggests that environmental, genetic, or biological factors act as disease modifiers. Still, the underlying mechanisms are not entirely understood. Here, we report that mild hypoxia accelerates CCM disease by promoting angiogenesis, neuroinflammation, and vascular thrombosis in the brains of CCM mouse models. METHODS: We used genetic studies, RNA sequencing, spatial transcriptome, micro-computed tomography, fluorescence-activated cell sorting, multiplex immunofluorescence, coculture studies, and imaging techniques to reveal that sustained mild hypoxia via the CX3CR1-CX3CL1 (CX3C motif chemokine receptor 1/chemokine [CX3C motif] ligand 1) signaling pathway influences cell-specific neuroinflammatory interactions, contributing to heterogeneity in CCM severity. RESULTS: Histological and expression profiles of CCM neurovascular lesions (Slco1c1-iCreERT2;Pdcd10fl/fl; Pdcd10BECKO) in male and female mice found that sustained mild hypoxia (12% O2, 7 days) accelerates CCM disease. Our findings indicate that a small reduction in oxygen levels can significantly increase angiogenesis, neuroinflammation, and thrombosis in CCM disease by enhancing the interactions between endothelium, astrocytes, and immune cells. Our study indicates that the interactions between CX3CR1 and CX3CL1 are crucial in the maturation of CCM lesions and propensity to CCM immunothrombosis. In particular, this pathway regulates the recruitment and activation of microglia and other immune cells in CCM lesions, which leads to lesion growth and thrombosis. We found that human CX3CR1 variants are linked to lower lesion burden in familial CCMs, proving it is a genetic modifier in human disease and a potential marker for aggressiveness. Moreover, monoclonal blocking antibody against CX3CL1 or reducing 1 copy of the Cx3cr1 gene significantly reduces hypoxia-induced CCM immunothrombosis. CONCLUSIONS: Our study reveals that interactions between CX3CR1 and CX3CL1 can modify CCM neuropathology when lesions are accelerated by environmental hypoxia. Moreover, a hypoxic environment or hypoxia signaling caused by CCM disease influences the balance between neuroinflammation and neuroprotection mediated by CX3CR1-CX3CL1 signaling. These results establish CX3CR1 as a genetic marker for patient stratification and a potential predictor of CCM aggressiveness.


Subject(s)
CX3C Chemokine Receptor 1 , Chemokine CX3CL1 , Disease Models, Animal , Hemangioma, Cavernous, Central Nervous System , Signal Transduction , Animals , Female , Humans , Male , Mice , Chemokine CX3CL1/metabolism , Chemokine CX3CL1/genetics , CX3C Chemokine Receptor 1/genetics , CX3C Chemokine Receptor 1/metabolism , Hemangioma, Cavernous, Central Nervous System/genetics , Hemangioma, Cavernous, Central Nervous System/metabolism , Hemangioma, Cavernous, Central Nervous System/pathology , Hypoxia/metabolism , Hypoxia/complications , Mice, Inbred C57BL , Mice, Knockout , Neovascularization, Pathologic/metabolism , Neuroinflammatory Diseases/metabolism , Neuroinflammatory Diseases/pathology , Neuroinflammatory Diseases/genetics
3.
Cureus ; 15(8): e43442, 2023 Aug.
Article in English | MEDLINE | ID: mdl-37711940

ABSTRACT

The diagnosis of primary retroperitoneal cavernous hemangiomas is extremely rare in clinical practice. Only a few cases have been reported. Due to the lack of specific radiological features, their diagnosis is uncommon. They are usually found incidentally or after symptoms as a consequence of complications. Adult retroperitoneal cavernous hemangiomas are extremely rare. This is a report of a rare case of a primary retroperitoneal cavernous hemangioma in a 45-year-old male patient discovered after acute appendicitis. A histopathological examination is conducted following total surgical resection to confirm the diagnosis.

4.
Autops Case Rep ; 13: e2023436, 2023.
Article in English | MEDLINE | ID: mdl-37415645
5.
Acta méd. peru ; 40(1)ene. 2023.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1439129

ABSTRACT

El cavernoma cerebral es una malformación vascular de diagnóstico infrecuente. Se define como una malformación a nivel de la vasculatura microcerebral que, dependiendo a la ubicación y si existe la posibilidad de ruptura, conlleva a una emergencia que puede terminar en la muerte del paciente. En esta oportunidad se reporta el caso de un paciente con cavernoma cerebral asociado al síndrome de Evans. Se decide manejo quirúrgico de la lesión por aumento de intensidad de cefalea e intolerancia oral. Dada la coexistencia del Síndrome de Evans y la alta tasa de morbimortalidad es que se decide manejo quirúrgico mediante radiocirugía estereotáxica con gamma knife. El uso de dosis de margen bajo para tratamiento con gamma knife para uso en cavernomas cerebrales produce un manejo controlado para sintomatología de convulsiones y mejor expectativa de calidad de vida.


Cerebral cavernoma is an infrequently diagnosed vascular malformation. It is defined as a malformation at the level of the microcerebral vasculature that, depending on the location and if there is a possibility of rupture, leads to an emergency that can end in the death of the patient. On this occasion, we report a case of a patient with cerebral cavernoma associated with Evans syndrome. Surgical management of the lesion was decided due to increased intensity of headache and oral intolerance. Given the coexistence of Evans Syndrome and the high rate of morbidity and mortality, surgical management was decided by stereotaxic radiosurgery with a gamma knife. The use of low-margin doses for treatment with gamma knife for use in brain cavernomas produces controlled management for seizure symptoms and better quality of life expectancy.

6.
Autops. Case Rep ; 13: e2023436, 2023. graf
Article in English | LILACS-Express | LILACS | ID: biblio-1439472
7.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-991068

ABSTRACT

Objective:To study the clinical features of pure spinal epidural cavernous hemangioma in order to improve the diagnosis and treatment ability.Methods:The clinical data of 7 patients with pure spinal epidural cavernous hemangioma from January 2013 to November 2022 in Xiangyang Central Hospital were analyzed retrospectively.Results:Among the 7 patients, 2 males and 5 females, and the average age was 49.4 years old. Location of the lesion: cervical spine 1 case, thoracic spine 5 cases, and lumbar spine 1 case. One patient had pure radicular symptoms, 4 patients had pure spinal cord symptoms, and the other 2 patients had both myelopathy symptoms and radicular symptoms. T 1 and T 2 weighted images showed equal or slightly longer signals, and the enhanced scans showed uniform enhancement. Before operation, 1 case was misdiagnosed as meningioma, and the patient′s lesion was not carefully identified during operation, so the lesion was mistaken for oozing hemorrhage caused by operation; 2 cases were misdiagnosed as schwannoma. All patients underwent preoperative localization and microsurgical resection of epidural lesions through the posterior median approach. The lesions were completely removed and no significant complications were observed during hospitalization. Before operation, the neurological function Frankel grade C was in 1 case, grade D in 3 cases, grade E in 3 cases; the patients were followed up for 1 to 117 months, at the last follow-up, neurological function Frankel grade D was in 3 cases, grade E in 4 cases, no recurrence was found. Conclusions:The pure spinal epidural cavernous hemangioma is very likely to be misdiagnosed as the schwannoma and meningioma in imaging, the preoperative imaging should be carefully observed. It is recommended to inject methylene blue into the spinous process of the lesion segment before operation and locate the photos to help with precise intraoperative positioning. Once the disease is considered, special attention should be paid when opening the vertebral lamina to remove the epidural fat during the operation. The lesion is prone to bleeding, and is mistakenly believed to be absorbed by the aspirator or bitten together with the epidural fat. Total resection is an effective treatment for this disease, and it should be treated as soon as possible to avoid the influence of acute hemorrhage on the prognosis.

8.
Autops Case Rep ; 12: e2021401, 2022.
Article in English | MEDLINE | ID: mdl-36186112

ABSTRACT

Diffuse hepatic hemangiomatosis (DHH) is an uncommon vascular lesion, though hemangiomas are the commonest benign tumors of the liver. The etiology is largely unknown to date; however, its association with giant cavernous hemangiomas (GCH) has been reported in the literature. We present herein, the case of a 37-year-old hypothyroid woman with abdominal fullness for 2 months. The contrast-enhanced computed tomography revealed multiple well-encapsulated lesions involving the liver lobes and was diagnosed as giant cavernous hemangiomas. Most of them, except the deep-seated ones, were enucleated. Histopathological examination highlighted the presence of GCH with irregular margin, replacement of hepatic parenchyma, and presence of multiple micro-hemangiomas suggesting the possibility of DHH further substantiated by retrospective radiological assessment. No extrahepatic vascular lesion was noted, and the post-operative recovery and follow-up were uneventful. Adult DHH is an uncommon entity. The diagnosis of DHH and its distinction from GCH are important from the management and prognostic point of view as recurrence, extrahepatic manifestations, features of consumption coagulopathy, and death from the complications are not uncommon.

9.
J Korean Neurosurg Soc ; 65(3): 415-421, 2022 May.
Article in English | MEDLINE | ID: mdl-35508959

ABSTRACT

OBJECTIVE: Seizure recurrence after the first-ever seizure in patients with a supratentorial cerebral cavernous malformation (CCM) is almost certain, so the diagnosis and treatment of epilepsy is justified. The optimal method of management of these patients is still a matter of debate. The aim of our study was to identify factors associated with postoperative seizure control and assess the surgical morbidity rate. METHODS: We retrospectively analysed 45 consecutive patients with a supratentorial CCM and symptomatic epilepsy in a single centre. Pre- and postoperative epidemiological data, seizure-related patient histories, neuroimaging results, surgery details and outcomes were obtained from hospital medical records. Seizure outcomes were assessed at least 12 months after surgery. RESULTS: Thirty-five patients (77.8%) were seizure free at the long-term follow-up (Engel class I); six (13,3%) had rare, nocturnal seizures (Engel class II); and four (8.9%) showed meaningful improvement (Engel class III). In 15 patients (33%) in the Engel I group; it was possible to discontinue antiepileptic medication. Although there was not statistical significance, our results suggest that patients can benefit from early surgery. No deaths occurred in our study, and mild postoperative neurologic deficits were observed in two patients (4%) at the long-term follow-up. CONCLUSION: Surgical resection of CCMs should be considered in all patients with a supratentorial malformation and epilepsy due to the favourable surgical results in terms of the epileptic seizure control rate and low postoperative morbidity risk, despite the use of different predictors for the seizure outcome.

10.
Stroke ; 53(8): 2521-2527, 2022 08.
Article in English | MEDLINE | ID: mdl-35410492

ABSTRACT

BACKGROUND: We aimed to determine the association between beta-blocker or statin drug use and the future risk of symptomatic intracranial hemorrhage or persistent/progressive focal neurological deficit from cerebral cavernous malformations (CCM). METHODS: The population-based Scottish Audit of Intracranial Vascular Malformations prospectively identified adults resident in Scotland first diagnosed with CCM during 1999 to 2003 or 2006 to 2010. We compared the association between beta-blocker or statin drug use after first presentation and the occurrence of new intracranial hemorrhage or persistent/progressive focal neurological deficit due to CCM for up to 15 years of prospective follow-up. We confirmed proportional hazards and used survival analysis with multivariable adjustment for age, intracranial hemorrhage at CCM presentation, and brain stem CCM location. RESULTS: Sixty-three (21%) of 300 adults used beta-blockers (27/63 [43%] used propranolol), and 73 (24%) used statin drugs over 3634 person-years of follow-up. At baseline, the only statistically significant imbalances in prespecified potential confounders were age by statin use and intracranial hemorrhage at presentation by beta-blocker use. Beta-blocker use was associated with a lower risk of new intracranial hemorrhage or persistent/progressive focal neurological deficit (adjusted hazard ratio, 0.09 [95% CI, 0.01-0.66]; P=0.018). Statin use was associated with a nonsignificant lower risk of intracranial hemorrhage or persistent/progressive focal neurological deficit (adjusted hazard ratio, 0.37 [95% CI, 0.01-1.07]; P=0.067). CONCLUSIONS: Beta-blocker, but not statin, use was associated with a lower risk of intracranial hemorrhage or persistent/progressive focal neurological deficit in patients with CCM.


Subject(s)
Hemangioma, Cavernous, Central Nervous System , Hydroxymethylglutaryl-CoA Reductase Inhibitors , Adrenergic beta-Antagonists/adverse effects , Adult , Brain Stem , Cerebral Hemorrhage/complications , Cerebral Hemorrhage/epidemiology , Hemangioma, Cavernous, Central Nervous System/complications , Hemangioma, Cavernous, Central Nervous System/drug therapy , Hemangioma, Cavernous, Central Nervous System/epidemiology , Humans , Hydroxymethylglutaryl-CoA Reductase Inhibitors/adverse effects , Intracranial Hemorrhages/chemically induced , Intracranial Hemorrhages/complications , Intracranial Hemorrhages/epidemiology , Prospective Studies
11.
Anesth Pain Med (Seoul) ; 17(4): 439-444, 2022 Oct.
Article in English | MEDLINE | ID: mdl-35378569

ABSTRACT

BACKGROUND: Spinal intramedullary cavernous angioma is a rare form of spinal cord tumor that is associated with myelopathy and significant morbidity and surgical treatment is almost always required. CASE: We report a case of spinal intramedullary cavernous angioma in a pain clinic with initial symptoms of unilateral interdigital space sensory change. Morton's neuroma and piriformis syndrome were clinically suspected, however, symptoms acutely aggravated, and paraplegia developed following the patient's COVID-19 vaccination. Vaccine-associated side effects were ruled out and spinal intramedullary cavernous angioma was confirmed through magnetic resonance image. The patient underwent surgery for complete mass excision. CONCLUSIONS: Recent reports of COVID-19 vaccine-associated side effects have raised sensitive concerns to both health care providers and the public, that in some cases when the symptoms coincide with vaccination history, it may delay time-sensitive diagnosis and treatment and spend unnecessary costs.

12.
Zhonghua Nan Ke Xue ; 28(8): 706-710, 2022 Aug.
Article in Chinese | MEDLINE | ID: mdl-37838970

ABSTRACT

OBJECTIVE: To explore the clinical diagnosis and treatment of testicular cavernous hemangioma (TCH). METHODS: We retrospectively analyzed the clinical data on a case of TCH associated with testicular torsion treated in our hospital and reviewed the relevant literature. RESULTS: The patient underwent "right orchiectomy" after preoperative examinations. Intraoperative pathology indicated testicular parenchyma infarction, and postoperative pathology showed cavernous hemangioma with hemorrhage and infarction. No recurrence was observed during 3 years of postoperative follow-up. CONCLUSION: Testicular cavernous hemangioma is an extremely rare benign tumor of the testis, and rarely associated with testicular torsion. Preoperative and intraoperative pathology provides a basis for the selection of reasonable treatment.


Subject(s)
Hemangioma, Cavernous , Spermatic Cord Torsion , Testicular Diseases , Testicular Neoplasms , Male , Humans , Spermatic Cord Torsion/surgery , Retrospective Studies , Testicular Neoplasms/complications , Testicular Neoplasms/surgery , Testicular Neoplasms/diagnosis , Testis/pathology , Hemangioma, Cavernous/complications , Hemangioma, Cavernous/diagnosis , Hemangioma, Cavernous/surgery , Orchiectomy , Testicular Diseases/surgery , Infarction/complications , Infarction/pathology , Infarction/surgery
13.
Arch. méd. Camaguey ; 26: e8942, 2022. graf
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1403298

ABSTRACT

RESUMEN Introducción: Los tumores de partes blandas son un grupo heterogéneo de lesiones tanto benignas como malignas. El origen histológico es diverso y entre ellos se encuentra el vascular como el hemangioma. Objetivo: Conocer un paciente con hemangioma cavernoso de partes blandas del pie derecho. Caso clínico: Paciente masculino de 21 años de edad, blanco sin antecedentes mórbidos de salud, acude a la consulta externa de Ortopedia y Traumatología por presentar una bola a nivel de la planta del pie derecho acompañada de dolor. Apareció hace dos años, pero ha incrementado su tamaño de forma rápida en los últimos tres meses. Mediante la exploración física se observó la tumoración en la cara plantar e interna del pie derecho, de consistencia dura, fija, mayor a 8 cm, de bordes irregulares y pobremente definidos con aumento de la temperatura local. Se realizaron exámenes complementarios imagenológicos y hematológicos. Al analizar el resultado de la exploración física y los complementarios se decidió la intervención quirúrgica consistente en la resección de la tumoración. Conclusiones: El hemangioma cavernoso es una enfermedad que afecta por lo general a niños y adolescentes sin predilección por el sexo, sus síntomas y signos más encontrados son el aumento de volumen y el dolor. El tratamiento consiste en la resección del tumor a través de un margen de seguridad y su principal complicación es la recidiva.


ABSTRACT Introduction: Soft tissue tumors are a heterogeneous group of both benign and malignant lesions. The histological origin is diverse and among them is the vascular one such as hemangioma. Objective: To present a patient with a soft tissue cavernous hemangioma of the right foot. Case report: A 21-year-old white male, without morbid antecedents, attended at the Orthopedics and Traumatology outpatient clinic for presenting a ball at the level of the sole of the right foot accompanied by pain. It appeared two years ago, but has grown rapidly in size in the last three months. The physical examination revealed that the tumor was on the plantar and inner side of the right foot, it was of a hard, fixed consistency, greater than eight centimeters, with irregular and poorly defined edges, with an increase in local temperature. Complementary imaging and hematological examinations were performed. Upon analyzing the results of the physical examination and the complementary ones, a surgical intervention consisting of resection of the tumor was decided. Conclusions: Cavernous hemangioma is an entity that generally affects children and adolescents without predilection for sex, its most common symptoms and signs are increased volume and pain. Treatment consists of resection of the tumor through a safety margin and its main complication is recurrence.

14.
Autops. Case Rep ; 12: e2021401, 2022. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1403564

ABSTRACT

Abstract Diffuse hepatic hemangiomatosis (DHH) is an uncommon vascular lesion, though hemangiomas are the commonest benign tumors of the liver. The etiology is largely unknown to date; however, its association with giant cavernous hemangiomas (GCH) has been reported in the literature. We present herein, the case of a 37-year-old hypothyroid woman with abdominal fullness for 2 months. The contrast-enhanced computed tomography revealed multiple well-encapsulated lesions involving the liver lobes and was diagnosed as giant cavernous hemangiomas. Most of them, except the deep-seated ones, were enucleated. Histopathological examination highlighted the presence of GCH with irregular margin, replacement of hepatic parenchyma, and presence of multiple micro-hemangiomas suggesting the possibility of DHH further substantiated by retrospective radiological assessment. No extrahepatic vascular lesion was noted, and the post-operative recovery and follow-up were uneventful. Adult DHH is an uncommon entity. The diagnosis of DHH and its distinction from GCH are important from the management and prognostic point of view as recurrence, extrahepatic manifestations, features of consumption coagulopathy, and death from the complications are not uncommon.

15.
Rev. med. Risaralda ; 27(1): 92-95, ene.-jun. 2021. graf
Article in Spanish | LILACS, COLNAL | ID: biblio-1280498

ABSTRACT

Resumen Las malformaciones venosas son lesiones vasculares benignas infrecuentes que se presentan en el útero. Están conformadas por venas anormales, de diferentes tamaños y proporciones, con configuración espongiforme y disposición al azar. En la literatura, han sido previamente reportados algunos casos, usando el término "hemangioma cavernoso", pero según los cambios recientes en la terminología, aprobados por Sociedad Internacional para el Estudio de las Anormalidades Vasculares (ISSVA), se desaconseja el uso de este término y se sugiere el de "Malformación venosa", si se cumplen los hallazgos histopatológicos al momento de hacer el diagnóstico. Presentamos el caso de una mujer de 44 años, con cuadro de hemorragia vaginal anormal y diagnóstico clínico de miomatosis y mioma abortado por el orificio cervical interno, el estudio histopatológico reveló la presencia de una malformación venosa que comprometía el miometrio y endometrio, con formación subsecuente de un pólipo.


Abstract Venous malformations are benign vascular lesions that rarely appear in the uterus. They are made up of abnormal veins, of different sizes and proportions, with spongiform configuration and random disposition. In the literature, some cases have been previously reported, using the term "cavernous hemangioma", but according to recent changes in terminology, approved by the International Society for the Study of Vascular Abnormalities (ISSVA), the use of this term is discouraged, and the diagnosis of Venous malformation is suggested, if the histopathological findings are met. We present the case of a 44-year-old woman, with abnormal vaginal bleeding and a clinical diagnosis of myomatosis and myoma aborted by the internal cervical orifice, in whom the histopathological study revealed the presence of a venous malformation that compromised the myometrium and endometrium, with subsequent formation of a polyp.


Subject(s)
Humans , Female , Adult , Uterus , Vascular Malformations , Hemangioma, Cavernous , Uterus/pathology , Vascular System Injuries , Hemangioma , Morphogenesis
17.
Chinese Journal of Neurology ; (12): 1009-1018, 2021.
Article in Chinese | WPRIM (Western Pacific) | ID: wpr-911828

ABSTRACT

Objective:To investigate the clinical manifestations and pathogenic gene mutation sites of familial cavernous hemangioma by a pedigree study of this disease.Methods:A family of cerebral cavernous hemangioma who was admitted to the Department of Neurology of the First Affiliated Hospital of Henan University of Science and Technology in April 2019 was diagnosed as cerebral cavernous hemangioma type 1 based on clinical manifestations and head magnetic resonance imaging (MRI), diffusion weighted imaging and susceptibility weighted imaging screening. According to Zabramski classification criteria, the family′s clinical data were collected and genes were sequenced.Results:A 58-year-old female proband had dizziness and headache as the main symptoms, her daughter and son had no clinical symptoms, and her granddaughter had clinical manifestations of cerebral hemorrhage and seizures. The proband and her family members showed multiple cavernous hemangioma on cranial MRI,and the p.L436fs mutation in the KRIT1 gene of familial cerebral cavernous malformation type 1 was confirmed through genetic examination, which was consistent with the Zabramski typing results based on head MRI. The mutation site of the familial spongiform malformation type 1 pathogenic gene was found to be p.L436fs in KRIT1 gene, which has not been reported in familial cerebral cavernous hemangioma type 1 until now.Conclusion:A new p.L436fs mutation of KRIT1 gene was found in familial cerebral cavernous malformation type 1, which expands understanding of the clinical manifestations and pathogenic gene mutation sites of familial cavernous hemangioma.

18.
Ochsner J ; 20(3): 303-306, 2020.
Article in English | MEDLINE | ID: mdl-33071664

ABSTRACT

Background: Diffusion tensor imaging (DTI) is a magnetic resonance-based imaging technique that can provide important information about the underlying structure and integrity of the white matter in the brain. Tractography, a DTI postprocessing technique, can provide a detailed model of individual white matter fiber tracts. Knowledge of these tracts may be beneficial in the surgical planning and execution for neurosurgical patients. Case Report: We review the basic principles behind DTI and present an illustrative case in which DTI was used to delineate the relationship of eloquent white matter tracts to a cavernous malformation in a patient undergoing resection. Conclusion: The use of DTI during preoperative planning allows the neurosurgeon to understand if a lesion is disrupting, infiltrating, or altering the course of local white matter tracts. With the combined use of DTI and intraoperative neuronavigation, the neurosurgeon can better identify and avoid white matter tracts, not only in the local area of resection but also during approach to the lesion, thereby reducing the risk of damage to vital cortical pathways and subsequent functional impairment.

19.
Br J Neurosurg ; : 1-2, 2020 Sep 22.
Article in English | MEDLINE | ID: mdl-32959687

ABSTRACT

The aim of this article is show the neuroimaging, the pathological analysis and makes a brief review regarding to a giant cavernous haemangioma located in cavernous sinus in a 72 years old patient. A brief review was made in the literature searching for the key words "hemangioma" and "cavernous sinus" in the databases PubMed and Scielo for the last ten years. The images addressed were obtained by magnetic resonance imaging (MRI) in FLAIR, T1 and T1-weighted contrast-enhanced. The intracranial cavernous haemangiomas are rare conditions that comprise from 0,1 to 4% of intracranial vascular malformations. Diagnosis is made by MRI, when available SPECT (99mTc) is used to confirm and the treatment is done surgically with complement of radiotherapy and radiosurgery. The reported neuroimaging and pathological analysis show a giant cavernous hemangioma in cavernous sinus, a benign neoplasm involving the left internal carotid artery and maintaining contact with the contralateral internal carotid artery formed by abundant vascular structures, but without the presence of a muscular tunic.

20.
Acta Clin Croat ; 59(1): 183-187, 2020 Mar.
Article in English | MEDLINE | ID: mdl-32724292

ABSTRACT

Giant cavernomas (GC) are rare lesions, with less than 50 cases reported so far. Clinical presentation usually involves epileptic seizures and less typically focal neurological deficit, due to repeated hemorrhages and GC mass effect and consequentially increased intracranial pressure. Although individual cases have been reported, due to the rarity and variable imaging appearance, GCs are usually not considered in the differential diagnosis of large hemorrhagic lesions, especially when significant mass effect is present. A 17-year-old boy presented due to severe headache, right-sided weakness, and slurred speech. Symptoms started three days before with occasional headaches, which intensified gradually. Emergency computed tomography revealed a left frontal massive heterogeneous lesion. Soon after, right-sided hemiparesis and speech impairment progressed, and the patient became drowsy with the slightly dilated left pupil. Emergency surgery was performed, and the lobed grayish lesion was entirely removed. Based on the macroscopic appearance, the surgeon assumed it was a metastasis of melanoma. Histopathologic analysis result was cavernoma. GC should be considered as an option in hemorrhagic lesions, especially in the young age population. Emergency surgery for mass lesions is not uncommon in neurosurgery; however, bleeding cavernomas are usually planned for elective surgery due to the specific approach and complications.


Subject(s)
Hemangioma, Cavernous, Central Nervous System , Adolescent , Hemangioma, Cavernous, Central Nervous System/diagnostic imaging , Hemangioma, Cavernous, Central Nervous System/surgery , Humans , Magnetic Resonance Imaging , Male , Neurosurgical Procedures , Tomography, X-Ray Computed
SELECTION OF CITATIONS
SEARCH DETAIL
...