Molecular diagnosis in 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...

Management of Cerebral Cavernous Malformations: From Diagnosis to Treatment

Cerebral cavernous malformations are the most common vascular malformations and can be found in many locations in the brain. If left untreated, cavernomas may lead to intracerebral hemorrhage, seizures, focal neurological deficits, or headaches. As they are angiographically occult, their diagnosis relies on various MR imaging techniques, which detect different characteristics of the lesions as ...

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...

Investigation of the Molecular Mechanism for Cerebral Cavernous Malformations

INVESTIGATION OF THE MOLECULAR MECHANISM FOR CEREBRAL CAVERNOUS MALFORMATIONS