Multiple cerebral cavernous malformations associated with extracranial mesenchymal anomalies.
Cerebral cavernous malformations (CCM) are common hamartous dysplasias characterized by abnormally dilated vascular channels. CCM mostly occur sporadically, and multiple occurrence of CCM is highly suggestive of a genetic origin of the disorder. Typical clinical symptoms are seizures, hemorrhages, focal neurological deficits, and headaches. Three genes have so far been described that are responsible for most cases of familial CCM and more than half of the sporadic cases with multiple CCM (CCM1-3). The coincidence of CCM and other vascular anomalies has been described before. The present review discusses the association of CCM with mesenchymal anomalies, with special emphasis on the possible common pathogenetic pathway for CCM and atrial myxomas. An illustrative case is presented in which CCM occurred together with different dysplasias (multiple CCM, liver cavernoma, and cardiac atrial myxoma), which are all thought to arise from abnormal mesenchymal cell differentiation processes.
Ardeshiri
Ardavan
A
Department of Neurosurgery, Ludwig-Maximilians-University of Munich, University Hospital, Munich, Germany.
Ardeshiri
Ardeshir
A
Beiras-Fernandez
Andres
A
Steinlein
Ortrud K
OK
Winkler
Peter A
PA
D002352:Carrier Proteins / Q000235:genetics; D016543:Central Nervous System Neoplasms / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006338:Heart Neoplasms / Q000175:diagnosis / Q000235:genetics; D020786:Hemangioma, Cavernous, Central Nervous System / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D000075927:KRIT1 Protein; D008279:Magnetic Resonance Imaging; D008869:Microtubule-Associated Proteins / Q000235:genetics; D008875:Middle Aged; D009232:Myxoma / Q000175:diagnosis / Q000235:genetics; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics
C502544:CCM2 protein, human; D002352:Carrier Proteins; D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins