Cavernous malformation

Intramedullary lesions of the spinal cord are relatively uncommon but can present with debilitating symptoms.1 These lesions are managed surgically if persistently symptomatic or after conservative treatment has failed.2 The patient consented to the procedure and the publication of their image. Here, the authors present the case of an intramedullary cavernous malformation and demonstrate the use of multiple preoperative and intraoperative adjuncts to characterize the lesion, confirm location, and allow for real-time evaluation of lesion removal during surgery...

Myoclonus-dystonia syndrome (MDS) presents with both rapid myoclonus and dystonia, which is caused by mutations in the sarcoglycan (SGCE) gene. However, its complications and management remain unclear. Here, we report a case involving a girl with MDS due to a 7q21.13-q21.3 microdeletion complicated by early-onset multiple cerebral cavernous malformations (CCMs). The patient presented with myoclonus and dystonia at two and eight years of age, respectively. In addition to MDS, the patient developed growth hormone (GH) deficiency and mild intellectual disability...

INTRODUCTION: There is uncertainty whether patients with a cerebral cavernous malformation (CCM) should undergo conservative or surgical treatment, resulting in practice variation among hospitals. Our objective was to report clinical outcomes of patients with primarily conservatively managed CCMs. PATIENTS AND METHODS: This single-center cohort study included consecutive adult CCM patients, diagnosed in 2000-2023, who underwent conservative management as primary treatment strategy...

BACKGROUND: Sporadic intracranial vascular malformations can pose significant risk to parturients, and additional reports of management may inform patient care. Here we describe the peripartum management of parturients with intracranial vascular malformations. METHODS: After Institutional Review Board approval, we performed a retrospective analysis of parturients with a known sporadic intracranial vascular malformation including cavernous malformation, developmental venous anomaly, or arteriovenous malformation who delivered at our institution between 2007 and 2020...

Cerebral cavernous malformation (CCM) or familial cavernomatosis is a rare, autosomal dominant, inherited disease characterized by the presence of vascular malformations consisting of blood vessels with an abnormal structure in the form of clusters. Based on the altered gene ( CCM1/Krit1 , CCM2 , CCM3 ) and its origin (spontaneous or familial), different types of this disease can be found. In this work we have isolated and cultivated primary endothelial cells (ECs) from peripheral blood of a type 1 CCM patient...

Goldenhar syndrome, a rare congenital anomaly, manifests as craniofacial malformations often necessitating intricate surgical interventions. These procedures, though crucial, can expose patients to diverse postoperative complications, including hemorrhage or infection. A noteworthy complication is stroke, potentially linked to air embolism or local surgical trauma. We highlight a case of a male patient, aged 20 years, who experienced a significant postoperative complication of an ischemic stroke, theorized to be due to an air embolism, after undergoing orthognathic procedures for Goldenhar syndrome...

BACKGROUND: Cavernous malformations (CMs), also known as cavernomas or cavernous angiomas, are vascular malformations characterized by sinusoidal spaces lined by endothelial cells. Giant CMs (GCMs) are extremely rare, with limited understanding of their presentation and management. We present a case of symptomatic GCM in a newborn and review the literature on this rare entity. CASE DESCRIPTION: A 1-month-old newborn presented with focal seizures and signs of increased intracranial pressure...

Cavernous hemangioma, currently known as "cavernous venous malformation," is a common, benign, non-infiltrative, slowly progressive vascular malformation of the orbit presenting in adults. We report the case of a 9-year-old girl who presented with a painless palpable mass over the right upper eyelid of 7 years' duration. A computed tomography scan of the orbits revealed a heterogeneously enhancing, well-circumscribed mass in the right upper eyelid with no orbital extension. A transcutaneous excisional biopsy with histopathology disclosed cavernous venous malformation...

Intracranial cavernous malformations (CMs) are vascular lesions with a high bleeding rate. At present, the debate regarding their treatment is still ongoing. The present systematic review and meta-analysis aimed to evaluate the safety of surgery or radiosurgery (SRS) for the management of CMs and to determine their potential outcomes compared with conservative treatment. The present systematic review and meta-analysis investigated the relative articles involving the management of intracranial CMs, namely their natural history (conservative treatment) vs...

BACKGROUND: Features associated with a safe surgical resection of cerebral cavernous malformations (CMs) are still not clear and what is needed to achieve this target has not been defined yet. METHODS: Clinical presentation, radiological features and anatomical locations were assessed for patients operated on from January 2008 to January 2018 for supratentorial and cerebellar cavernomas. Supratentorial CMs were divided into 3 subgroups (non-critical vs. superficial critical vs...

BACKGROUND: Colorectal cavernous hemangioma is a rare vascular malformation resulting in recurrent lower gastrointestinal hemorrhage, and can be misinterpreted as colitis. Surgical resection is currently the mainstay of treatment, with an emphasis on sphincter preservation. CASE SUMMARY: We present details of two young patients with a history of persistent hematochezia diagnosed with colorectal cavernous hemangioma by endoscopic ultrasound (EUS). Cavernous hemangioma was relieved by several EUS-guided lauromacrogol injections and the patients achieved favorable clinical prognosis...

BACKGROUND: Radiation treatment for diseases of the brain can result in hemorrhagic adverse radiation effects. The underlying pathologic substrate of brain bleeding after irradiation has not been elucidated, nor potential associations with induced somatic mutations. METHODS: We retrospectively reviewed our department's pathology database over 5 years and identified 5 biopsy specimens (4 patients) for hemorrhagic lesions after brain irradiation. Tissues with active malignancy were excluded...

BACKGROUND AND OBJECTIVES: Microsurgical resection is the only curative intervention for symptomatic brainstem cavernous malformations (BSCMs), but the management of these lesions in older adults (≥65 years) is not well described. This study sought to address this gap by examining the safety and efficacy of BSCM resection in a cohort of older adults. METHODS: Records of patients who underwent BSCM resection over a 30-year period were reviewed retrospectively...

Cerebral cavernous malformation (CCM) is a vascular anomaly commonly found in children and young adults. Common clinical presentations of pediatric patients with CCMs include headache, focal neurological deficits, and seizures. Approximately 40% of pediatric patients are asymptomatic. Understanding the natural history of CCM is crucial and hemorrhagic rates are higher in patients with an initial hemorrhagic presentation, whereas it is low in asymptomatic patients. There is a phenomenon known as temporal clustering in which a higher frequency of symptomatic hemorrhages occurs within a few years following the initial hemorrhagic event...

BACKGROUND: Cavernous malformation (CM) is a well-known cause of epilepsy. Although the location of the CM is usually consistent with the side of seizure onset, some reports have described discrepancies between results from scalp electroencephalography (EEG) and CM location. This study investigated the prevalence and features of patients showing false lateralization (FL). Particularly, we tested the hypothesis that patients showing FL were more likely to have CM in medial and deep areas of the brain than in other areas...

BACKGROUND: Cerebral cavernous malformation (CCM) is a disease associated with elevated risk of focal neurological deficits, seizures, and hemorrhagic stroke. The disease has an inflammation profile and improved knowledge of CCM pathology mechanisms and exploration of candidate biomarkers will enable new non-invasive treatments. METHODS: We analyzed protein expression signature in human CCM tissue samples by using a highly specific and sensitive multiplexing technique, proximity extension assay...

BACKGROUND: Spinal arachnoiditis can result from various factors, including spinal subarachnoid hemorrhage (sSAH). In this paper, the authors describe a case of intradural extramedullary cavernoma with an initial presentation of subarachnoid hemorrhage leading to multilevel spinal arachnoiditis to discuss the pathophysiology and optimal treatment strategy. OBSERVATIONS: Spinal intradural extramedullary cavernoma manifesting with sSAH is a rare clinical presentation; therefore, there is no clear strategy for the management of sSAH...

BACKGROUND: Symptomatic brainstem cavernous malformations (BSCMs) pose a high risk of morbidity and mortality due to recurrent hemorrhage, warranting aggressive management. However, few studies have compared the effectiveness of different treatment modalities for BSCMs. We aimed to assess the association of treatment modalities with recurrent hemorrhage and neurological outcomes in patients with BSCM. METHODS: We conducted a retrospective cohort study using an observational registry database covering population of southwest and southeast China...

Cavernous malformations (CMs) are rare and often oligosymptomatic vascular lesions. The main symptoms include seizure and focal neurological deficits.1-3 Depending on the symptomatology, the location, the size, and the risk factors for bleeding, like the presence of a developmental venous anomaly, it can be highly morbid. Thus, surgical resection may be considered. Deep-seated and eloquent CMs, like those in the uncus, can be challenging.4,5 In this operative video, we present a 23-year-old male adult who developed focal seizures (i...

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