cerebral cavernous malformation

Epidemiology

• incidence of 0.1%-0.5% in the general population
• generally present clinically during the 3rd to 5th decade of life

Pathology

• congenital vascular anomalies of the central nervous system
• grossly enlarged blood vessels
  • single layer of endothelium, without any intervening neural tissue
  • ranging in diameter from a few millimeters to several centimeters

Genetics

• familial forms are autosomal dominant
• defects in KRIT1 gene (type 1)
• defects in CCM2 gene (type 2)
• defects in PDCD10 gene (type 3)

Radiology

• neuroimaging, magnetic resonance imaging (NGC)

* MRI images

Complications

• hemorrhagic stroke*
  • generally intracerebral hemorrhage is self-limited
• refractory seizures, status epilepticus*
• recurrent headaches
• focal neurologic deficits

* evaluate for non-convulsive status epilepticus with EEG monitoring if altered mental status persists after treatment for convulsive status epilepticus

Management

• surgical resection may be indicated if patient is high risk
  • stabilize after hemorrhagic stroke prior to surgery
  • generally intracerebral hemorrhage is self-limited

More general terms

• genetic disease of blood vessels
• genetic disease of the central nervous system

Additional terms

• cavernous hemangioma (cavernoma, capillary venous lymphatic malformation, CVL, nevus cavernosus, vascular erectile tumor)

Database

• OMIM: https://mirror.omim.org/entry/116860
• OMIM: https://mirror.omim.org/entry/603284
• OMIM: https://mirror.omim.org/entry/603285