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cerebral cavernous malformation
Epidemiology:
1) incidence of 0.1%-0.5% in the general population
2) generally present clinically during the 3rd to 5th decade of life
Pathology:
1) congenital vascular anomalies of the central nervous system
2) grossly enlarged blood vessels
a) single layer of endothelium, without any intervening neural tissue
b) ranging in diameter from a few millimeters to several centimeters
Genetics:
1) familial forms are autosomal dominant
2) defects in KRIT1 gene (type 1)
3) defects in CCM2 gene (type 2)
4) defects in PDCD10 gene (type 3) [3]
Radiology:
- neuroimaging, magnetic resonance imaging (NGC)
* MRI images [5]
Complications:
1) hemorrhagic stroke*
- generally intracerebral hemorrhage is self-limited [4]
2) refractory seizures, status epilepticus*
3) recurrent headaches
4) focal neurologic deficits
* evaluate for non-convulsive status epilepticus with EEG monitoring if altered mental status persists after treatment for convulsive status epilepticus [4]
Management:
- surgical resection may be indicated if patient is high risk
- stabilize after hemorrhagic stroke prior to surgery
- generally intracerebral hemorrhage is self-limited [4]
Related
cavernous hemangioma (cavernoma, capillary venous lymphatic malformation, CVL, nevus cavernosus, vascular erectile tumor)
General
genetic disease of blood vessels
genetic disease of the central nervous system
Database Correlations
OMIM correlations
References
- UniProt :accession Q9BSQ5
- OMIM :accession 603284
- OMIM :accession 603285
- Medical Knowledge Self Assessment Program (MKSAP) 17,
American College of Physicians, Philadelphia 2015
- Ganmore I, Achiron A (MRI images)
Cerebral Cavernous Malformations.
N Engl J Med 2017; 377:71. July 6, 2017
PMID: 28679101
http://www.nejm.org/doi/full/10.1056/NEJMicm1613312