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Vertebral and spinal cavernous angiomas associated with familial cerebral cavernous malformation.
Toldo, Irene; Drigo, Paola; Mammi, Isabella; Marini, Valeria; Carollo, Carla.
Afiliação
  • Toldo I; Department of Pediatrics, University of Padua, Padova 35128, Italy.
Surg Neurol ; 71(2): 167-71, 2009 Feb.
Article em En | MEDLINE | ID: mdl-18207546
ABSTRACT

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. CASE DESCRIPTION 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.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias da Coluna Vertebral / Neoplasias do Sistema Nervoso Central / Malformações Vasculares do Sistema Nervoso Central / Hemangioma Cavernoso Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Surg Neurol Ano de publicação: 2009 Tipo de documento: Article País de afiliação: Itália

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias da Coluna Vertebral / Neoplasias do Sistema Nervoso Central / Malformações Vasculares do Sistema Nervoso Central / Hemangioma Cavernoso Tipo de estudo: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Surg Neurol Ano de publicação: 2009 Tipo de documento: Article País de afiliação: Itália