This chapter discusses the demographic data, pathological characteristics and pathophysiological mechanisms of epilepsy in Cavernous malformations (CMs). It presents genetic aspects, clinical features, diagnostic tools and therapeutic options for CMs. CMs are characterized by low-flow sinusoidal vessels lined by thin endothelial walls with no obvious feeding arteries or venous drainage. For an optimal therapeutic approach it is mandatory to understand the epilepsy inducing mechanisms associated with CMs. Numerous studies of magnetoencephalography (MEG) in medically intractable epilepsy have shown that MEG can detect interictal and ictal epileptiform activity. The role in diagnosis and the history of imaging techniques such as cerebral angiography, computed tomography (CT), and magnetic resonance imaging (MRI) as well as the radiological characteristics of CM have been extensively reviewed in recent literature. The optimal management of CMs presenting with epileptic seizures is still a matter of debate.

Vascular malformations constitute an important cause of intracranial hemorrhage especially in younger patients. These malformations may arise from any segment of the different functional units of the brain vasculature, including arteries, arterioles, capillaries, venules, and veins. Among vascular malformations causing intracranial hemorrhage, brain arteriovenous malformations (AVMs) are among the most frequently encountered. Brain AVMs commonly affect distal arterial branches and in roughly half of the cases, the malformation is found in the borderzone region shared by the distal anterior, middle, and/or posterior cerebral arteries. Cerebral angiography may help to differentiate brain AVMs from other types of intracranial anomalies with arterio-venous shunting. Resection of an associated developmental venous anomaly is contraindicated as its occlusion may lead to venous stasis, brain edema, and eventual hemorrhage. A developmental venous anomaly (DVA) is found in up to 30% of cerebral cavernous malformations (CCM) patients.

Scleroderma (progressive systemic sclerosis) is a multisystem connective tissue disorder characterized by inflammation, fibrosis, and vasculopathy of affected tissues. CNS vasculitis, segmental vasospasm, and cerebrovascular calcifications may all play a role in causing strokes in patients with scleroderma. CNS vasculitis has been diagnosed in several patients with scleroderma and has been posited to cause strokes. Cerebral infarction in scleroderma patients in the absence of other plausible, causative factors should prompt an aggressive workup for vasculitis including angiography. Results of cerebral angiography in several patients thought to have vasculitis are consistent with the diagnosis of vasoconstriction. Arteriography revealed segmental, often smoothly contoured, narrowing of arteries of multiple sizes (small, medium, and large) in both the anterior and posterior circulations. Whether vascular calcium deposits were responsible for the patients' cerebrovascular symptoms is speculative. Scleroderma patients with cerebrovascular disease must take into consideration the potential causes of stroke.

The anti-phospholipid syndrome (APS) was first described in 1983. Anti-phospholipid antibodies form a heterogeneous family that can be detected using a number of immunoreactivity assays. Brain ischemic events in patients with anti-phospholipid antibodies can occur in any vascular territory. Anti-phospholipid antibodies are well established as risk factors in a first ischemic stroke, but their role in recurrent stroke is less clear. Cerebral angiography typically demonstrates intracranial branch or trunk occlusion or is normal in about one-third of patients so studied. Echocardiography (primarily two-dimensional, transthoracic) is abnormal in one-third of patients, typically demonstrating nonspecific left-sided valvular (predominantly mitral) lesions, characterized by valve thickening. Recurrent stroke in patients with livedo reticularis (Sneddon's syndrome) has been associated with anti-phospholipid antibodies. Treatment such as platelet antiaggregant and anticoagulant therapy for secondary stroke prevention have both been used in anti-phospholipid antibody syndrome (AAS) and in cerebrovascular disease associated with antiphospholipid antibody immunoreactivity.