cavernous malformations

No abstract text is available yet for this article.

The epicardium provides epicardial-derived cells and molecular signals to support cardiac development and regeneration. Zebrafish and mouse studies have shown that ccm2 , a cerebral cavernous malformation disease gene, is essential for cardiac development. Endocardial cell-specific deletion of Ccm2 in mice has previously established that Ccm2 is essential for maintenance of the cardiac jelly for cardiac development during early gestation. The current study aimed to explore the function of Ccm2 in epicardial cells for heart development and regeneration...

Pediatric neuroimaging presents a unique set of challenges, primarily stemming from the intricacies of normal myelination processes occurring within the initial two years of life. This complexity is particularly pronounced in the context of pediatric epilepsy, where a substantial proportion of neuroimaging cases appears normal, especially in instances of idiopathic or provoked seizures. Nevertheless, abnormalities in neuroimaging tend to manifest in cases of acute or remote symptomatic seizures. Notably, the etiological landscape of seizures in children diverges significantly from that observed in adults, with neurodevelopmental, neurometabolic, and neuro-infectious factors emerging as predominant contributors...

Cavernous malformations occur in approximately 0.5% of the population. When it comes to the medulla oblongata, the incidence rate is around 5%.1,2 Patients with these conditions face potential risks such as hemorrhaging, substantial mortality, and morbidity. The symptoms experienced by the patient vary depending on the extent of hemorrhaging and the location of the lesion. Surgery stands as the primary and essential form of treatment in these cases.1-4 The aim of this operative video was to present the removal of a medulla oblongata cavernoma...

BACKGROUND: The development of new dural arteriovenous fistulas (DAVFs) at another location following endovascular treatment of cavernous sinus DAVFs (CSDAVFs) are extremely rare. Our aim is to review cases of de Novo DAVFs that occurred after treatment of CSDAVFs at our institution and those reported in the literature. METHODS: We reviewed all cases of CSDAVFs evaluated by 2 experienced neuroradiologists. A literature search was performed using the PRISMA (preferred reporting items for systematic reviews and meta-analyses) guidelines focusing on De Novo DAVFs following the endovascular treatment of cerebrovascular malformations...

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Aim of this article is to give an overview of the technical background and the advantages of modern devices for different applications of cryoablation in cranio-orbital neurosurgery.The treatment of orbital lesions is complicated by the complex and potentially inapparent anatomy due to retro-orbital fat. With the help of cryoprobes different well-defined lesions such as cavernous venous malformations can be safely and effectively removed thanks to the cryoadhesive effect. Their use has been described in several different approaches including traditional lateral or transcranial orbitotomy but also anterior transconjunctival as well as transnasal endoscopic approaches...

BACKGROUND: Cerebral Cavernous Malformation (CCM) is one of the most common types of vascular malformation of the central nervous system. Intracerebral hemorrhage, seizures, and lesional growth are the main clinical manifestations. Natural history studies have tried to identify many risk factors; however, the clinical course remains highly unpredictable. OBJECTIVE: Here, we have analyzed a multicenter CCM cohort looking for the differential clinical data regarding the patients harboring supra and/or infratentorial cavernous malformations in order to better understand risk factors involved in the anatomical location of the unique neurosurgical disease...

New England Journal of Medicine, Volume 390, Issue 11, Page 1022-1028, March 2024.

Pediatric central nervous system (CNS) vascular malformations are a group of abnormal blood vessel formations within the brain or spinal cord in children. The most crucial point of pediatric CNS vascular malformation is that no golden standard classifications exist. In addition, there is a big gap in knowledge and the viewpoint of clinicians, radiologists, and pathologists. In addition, many genes associated with pediatric CNS vascular malformation, such as Sturge-Weber-Dimitri syndrome with guanine nucleotide-binding protein G(q) subunit alpha (GNAQ) gene mutation, and cavernous malformations with cerebral cavernous malformations 1 (CCM1), CCM2, and CCM3 gene mutation, were recently revealed...

BACKGROUND: Cerebral cavernous malformations are complex vascular anomalies in the central nervous system associated with a risk of intracranial hemorrhage. Traditional guidelines have been cautious about the use of antithrombotic therapy in this patient group, citing concerns about potential bleeding risk. However, recent research posits that antithrombotic therapy may actually be beneficial. This study aims to clarify the association between antithrombotic therapy, including antiplatelet and anticoagulant medications, and the risk of intracranial hemorrhage in patients with cerebral cavernous malformations...

OBJECTIVE: Cerebral cavernous malformations (CMs) are pathological lesions that cause discrete cortical disruption with hemorrhage, and their transcortical resections can cause additional iatrogenic disruption. The analysis of microsurgically treated CMs might identify areas of "eloquent noneloquence," or cortex that is associated with unexpected deficits when injured or transgressed. METHODS: Patients from a consecutive microsurgical series of superficial cerebral CMs who presented to the authors' center over a 13-year period were retrospectively analyzed...

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INTRODUCTION: Brain cavernomas or cavernous angiomas are a rare vascular malformation in the general population, even more so in pediatric patients. Their incidence in this group is less than 5% of all vascular malformations. They are typically found in the cerebral hemispheres in cortico-subcortical locations and, more rarely, in the brainstem. OBJECTIVE: To describe the diagnosis, treatment, and follow-up of a case involving a pediatric patient with a giant cavernoma in the brainstem at J...

Although cavernous malformations (CMs) often demonstrate characteristic T2 heterogeneity and gadolinium enhancement, whereas arteriovenous malformations (AVMs) appear as tangles of T2 hypointense flow voids, small lesions in deep locations may have equivocal features on preoperative imaging.1-4 This video presents an unusual case of a lateral pontine AVM masquerading as a CM. The patient presented with sudden-onset headache, dizziness, double vision, and left facial numbness. Diagnostic imaging findings suggested a hemorrhagic left lateral pontine mass lesion, most consistent with brainstem CM...

BACKGROUND AND OBJECTIVES: Accessing lesions in the posterior-medial thalamus can be challenging because of their deep location and intricate neurovascular anatomy. This study aims to describe the techniques and feasibility of the endoscopic supracerebellar infratentorial transpineal approach for treating posterior-medial thalamus lesions. METHODS: We reviewed and analyzed the clinical outcomes and endoscopic surgical experience of 11 patients with posterior-medial thalamic lesions...

Previously reported midbrain cavernous malformations often exhibit lateral expansion, making their excision through the nearest brain surface incision easier.1-5 Nevertheless, excising a midbrain cavernous malformation that lacks lateral extension can be particularly challenging because of limited access.5 The anterior midline approach is typically conducted through the interpeduncular fossa zone.3,5 Still, it restricts surgical maneuverability because of the presence of the posterior communicating artery, the posterior cerebral artery, and the oculomotor nerve...

A 59-year-old woman presented to our clinic with a 3.5× 3-cm protruding mass on her forehead. A skull X-ray revealed a radiolucent osteolytic lesion on the left side of the frontal bone. Additionally, computed tomography showed a 3.1× 1.7× 3.6-cm mass exhibiting a "sunburst" pattern situated between the outer and inner tables of the skull, just superior and lateral to the left frontal sinus. This pattern suggested the presence of an intraosseous vascular malformation (IVM). The lesion was approached via a bicoronal incision...

Cancers of unknown primary (CUPs) pose diagnostic and therapeutic challenges because of their aggressive nature and elusive identification through conventional diagnostic means. This case report presents a unique finding in a 57-year-old female patient who, alongside her CUP, developed a cavernous mesenteric lymphangioma-a rare lymphatic malformation that is more commonly observed in pediatric populations. The interrelation between CUPs, chylous ascites, and lymphangiomas is explored, shedding light on this uncommon occurrence...

Dysautonomia is a disruption of the body's autonomic processes. Symptoms vary among patients, depending on the underlying disease pathways. Given that symptoms can affect all organ functions, dysautonomia often significantly impacts quality of life. However, due to its complex and varied presentation, early recognition of dysautonomia remains a challenge, yet it is crucial for improving patient outcomes. We report a case of a patient with a KRIT1 mutation presenting with dysautonomia causing urological, sexual, and bowel dysfunction...