Vertebral and spinal cavernous angiomas associated with familial cerebral cavernous malformation.
BACKGROUND
Cerebral cavernous malformations are vascular malformations that affect the CNS and have been associated with cutaneous, retinal, and hepatic lesions. Until now, vertebral hemangiomas associated with CCM have been described only in one case. The coexistence of intracranial and spinal cavernous angiomas in familial CCM is extremely rare. In addition to previous studies, the occurrence of spinal, vertebral, and cutaneous cavernous angiomas is now described in different members of a large family with CCM.


METHODS
Our study reports a previously described family (IFCAS-07) with 12 members affected by autosomal dominant cavernous angiomas: 11 had CCM either alone or associated with hepatic or retinal angiomas, and one had only hepatic angioma. In all 11 members affected by CCM, the mutation of CCM1 gene was detected. During the follow-up, 8 subjects underwent a spinal MRI: 2 because they were symptomatic (thoracic paresthesias, enuresis, back pain) and 6 as a screening examination. Spinal MRI showed in 5 subjects spinal cavernous angiomas either alone or associated with vertebral hemangiomas.


CONCLUSIONS
To our knowledge, this is the largest family reported with different subjects affected by CCM associated with multiple cavernous angiomas throughout (brain and spinal cord) and besides (retina, skin, liver, and vertebral column) the CNS. Comprehensive care of patients with familial CCM includes screening of all the tissues that can be affected and appropriate management by specialists. We emphasize the importance of spinal MRI in the diagnosis of spinal and vertebral cavernous angiomas in all patients affected by familial CCM.
Toldo
Irene
I
Department of Pediatrics, University of Padua, Padova 35128, Italy.
Drigo
Paola
P
Mammi
Isabella
I
Marini
Valeria
V
Carollo
Carla
C
D000328:Adult; D016543:Central Nervous System Neoplasms / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D020785:Central Nervous System Vascular Malformations / Q000150:complications* / Q000235:genetics; D015331:Cohort Studies; D005260:Female; D006392:Hemangioma, Cavernous / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D006801:Humans; D000075927:KRIT1 Protein; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree; D011518:Proto-Oncogene Proteins / Q000235:genetics; D012878:Skin Neoplasms / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D013125:Spinal Neoplasms / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D055815:Young Adult
D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins