Cerebral Cavernous Malformation (CCM): Symptoms, Causes, and Treatment

Cerebral cavernous malformations (CCMs) are clusters of thin-walled, dilated capillaries in the brain that leak blood, causing neurological symptoms. Also called cavernous angiomas.

Clinical Presentation

• Seizures (most common)
• Headaches
• Focal deficits: weakness, numbness, speech difficulty, vision changes
• Asymptomatic in ~25% (incidental finding)

Etiology

• Sporadic (~80%): Single lesion, no family history.
• Familial (~20%): Autosomal dominant; mutations in CCM1 (KRIT1), CCM2, or CCM3 (PDCD10).

Diagnosis & Management

• MRI (gradient-echo/SWI) is gold standard.
• Asymptomatic: observation with periodic imaging.
• Symptomatic: surgical resection (if accessible), stereotactic radiosurgery, or anti-seizure medications.

Genetic counseling recommended for familial cases.