Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2016 Dec 28;7(Suppl 44):S1127-S1134.
doi: 10.4103/2152-7806.196921. eCollection 2016.

Pediatric cerebral cavernous malformations: Genetics, pathogenesis, and management

Michael G Z Ghali  1 , Visish M Srinivasan  2 , Arvind C Mohan  2 , Jeremy Y Jones  3 , Peter T Kan  2 , Sandi Lam  2
Affiliations
Review

Pediatric cerebral cavernous malformations: Genetics, pathogenesis, and management

Michael G Z Ghali et al. Surg Neurol Int. .
No abstract available

Keywords: Cerebral cavernous malformation; cavernous angioma; cavernous hemangioma; intracranial; neurovascular; vascular lesion.

PubMed Disclaimer

Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Evolution of hemorrhage from familial cavernous malformation (Case 1). (a) Computerized tomography (CT) of head at presentation, showing 2.5 × 3 cm hemorrhagic CM in right thalamic-mesencephalic junction. (b) Magnetic resonance imaging (MRI) of the brain, axial gradient echo sequence showing the same. (c) Expansion of hemorrhage to 3.5 × 3 × 3 cm. (d) CT head, sagittal section, day 9, showing further extension in the craniocaudal dimension. (e) Preoperative MRI brain, axial gradient echo sequence, showing lesion growing to 3.3 cm anteroposterior × 3.7 cm transverse × 3.7 cm craniocaudal. (f) Postoperative CT head showing complete resection of lesion and hematoma
Figure 2
Figure 2
Evolution of hemorrhage in brainstem cavernous malformation (Case 2). (a) Computerized tomography (CT) of the head at presentation showing hemorrhage in right middle cerebellar peduncle that does not extend to the pial surface. (b) CT head 1 month later during recurrence of symptoms shows worsened perilesional edema and progression toward the ependymal surface of the fourth ventricle. (c) Magnetic resonance imaging (MRI) of the brain T1-weighted sequence with contrast at the time of second hemorrhage demonstrates surgical corridor made possible by hemorrhage extending to the right lateral recess of fourth ventricle. (d) Postoperative MRI demonstrates complete resection of lesion
Figure 3
Figure 3
Summary of main pathways of cavernoma-genesis and potential targeted therapies. The molecular pathogenesis of familial cavernomas centers around modulation of Rho Kinase (ROCK), which modulates microtubule synthesis. This, in turn, alters contractility of endothelial cells, intercellular adhesion, and vascular integrity. Loss of vascular integrity allows cavernoma-genesis
See this image and copyright information in PMC

References

    1. Abla AA, Turner JD, Mitha AP, Lekovic G, Spetzler RF. Surgical approaches to brainstem cavernous malformations. Neurosurg Focus. 2010;29:E8. - PubMed
    1. Akers AL, Johnson E, Steinberg GK, Zabramski JM, Marchuk DA. Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): Evidence for a two-hit mechanism of CCM pathogenesis. Hum Mol Genet. 2009;18:919–30. - PMC - PubMed
    1. Al-Holou WN, O’Lynnger TM, Pandey AS, Gemmete JJ, Thompson BG, Muraszko KM, et al. Natural history and imaging prevalence of cavernous malformations in children and young adults. J Neurosurg Pediatr. 2012;9:198–205. - PubMed
    1. Al-Shahi Salman R, Hall JM, Horne MA, Moultrie F, Josephson CB, Bhattacharya JJ, et al. Untreated clinical course of cerebral cavernous malformations: A prospective, population-based cohort study. Lancet Neurol. 2012;11:217–24. - PMC - PubMed
    1. Amin-Hanjani S, Ogilvy CS, Candia GJ, Lyons S, Chapman PH. Stereotactic radiosurgery for cavernous malformations: Kjellberg's experience with proton beam therapy in 98 cases at the Harvard Cyclotron. Neurosurgery. 1998;42:1229–36. - PubMed

LinkOut - more resources