Multiple sporadic cerebral cavernous malformations

Cerebral cavernous malformations.

Clinical reasoning: cerebral cavernous malformations.

Lama M. Chahine, MD Michel J. Berg, MD SECTION 1 A 40-year-old man presented for management of seizures. His first seizure was 5 years earlier. Evaluation at that time revealed a hemorrhagic lesion near the occipital horn of the left lateral ventricle. Incomplete surgical excision was performed with indeterminate pathology suggestive of an astrocytoma. MRI demonstrated 7 separate lesions consis...

The cerebral cavernous malformations proteins.

Inherited mutations in three genes lead to the familial form of Cerebral Cavernous Malformations (CCM). These vascular dysplasias most commonly occur in the brain, and manifest as dilated, mulberry-shaped lesions with a single endothelial layer. The consequences of these lesions can be leakage and sequelae such as focal neurological deficits, epilepsy, or hemorrhagic stroke. Until recently, how...

Correction: PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations

Cerebral cavernous malformations (CCMs) are vascular abnormalities that may cause seizures, intracerebral haemorrhages, and focal neurological deficits. Familial form shows an autosomal dominant pattern of inheritance with incomplete penetrance and variable clinical expression. Three genes have been identified causing familial CCM: KRIT1/CCM1, MGC4607/CCM2, and PDCD10/CCM3. Aim of this study is...

Epilepsy surgery in patients with multiple cerebral cavernous malformations

PURPOSE Cerebral cavernous malformations (CCMs) are frequently associated with intractable epilepsy. Whereas surgery indication in single CCMs is clear, data regarding the efficacy of epilepsy surgery in patients with multiple CCMs are scarce. We sought to clarify diagnostic requirements and postoperative outcome in patients with multiple CCMs and refractory epilepsy. METHODS Retrospective an...