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Cerebral cavernous malformations

Orpha number ORPHA164
Synonym(s) Brain cavernous angioma
Brain cavernous hemangioma
Cerebral cavernoma
Prevalence >1 / 1000
Inheritance
  • Sporadic
  • Autosomal dominant
Age of onset Variable
ICD-10
  • D18.0
OMIM -
UMLS -
MeSH -
MedDRA -
SNOMED CT
  • 444869007

Summary

Cerebral cavernous malformations (CCMs) are vascular malformations composed of closely clustered irregular dilated capillaries. CCMs are mostly located in the brain and spinal cord and sometimes in retina and skin. CCMs can occur either as a sporadic condition or as an autosomal dominant disorder. Sporadic cases harbor only one lesion and are most often asymptomatic and are not rare. When symptomatic, a patient with a CCM may present with seizures, non-specific headaches, progressive or transient focal neurologic deficits, and/or cerebral hemorrhages. In contrast to sporadic CCMs, familial CCM (FCCMs; see this term) is a rare dominantly inherited condition with a gradual clinical course. FCCM is often symptomatic and is characterized by the presence of multiple lesions on the MRI.

Expert reviewer(s)

  • Pr Elisabeth TOURNIER-LASSERVE

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Detailed information

Clinical practice guidelines
  • DE (2008)
Article for general public
  • FR (2008,pdf)
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