Cerebral Cavernous Malformations (CCM)
Cerebral cavernous malformation (CCM) is a vascular disease mainly affecting the brain, characterized by abnormally enlarged capillary cavities which are thin-walled, lack smooth muscle support, and are devoid of intervening brain tissue. Clinical symptoms of CCM include seizure, cerebral hemorrhage, headaches, and focal neurological deficits. The prevalence of CCM in the general population is estimated to be approximately 0.5%. CCM may be either sporadic or familial. Familial CCM is generally characterized by multiple lesions seen on magnetic resonance imaging (MRI) and a positive family history that is consistent with an autosomal dominant pattern of inheritance. Approximately 50% of Hispanic Americans of Mexican descent with CCM have the familial form of CCM, compared with 10% to 20% of the white CCM population. Familial CCM displays incomplete clinical and neuroradiologic penetrance (not everyone who carries a variant associated with the disease is clinically affected) and variable expressivity (different clinical manifestations among affected individuals). Three genes associated with familial CCM have been identified to date: cerebral cavernous malformations 1 (CCM1, also known as KRIT1), cerebral cavernous malformations 2 (CCM2, also known as MGC460), and cerebral cavernous malformations 3 (CCM3, also known as PDCD10). Current treatment for CCM includes observation, drug therapy for treatment of epilepsy and headaches, and surgery for epilepsy and cerebral hemorrhage.
- Cavernous Sinus