Cerebral Cavernous Malformations

Abstract

We studied 24 patients with histologically verified cerebral cavernous malformations, reviewing the familial occurrence and presenting signs, symptoms, and radiographic features of the disorder. Eleven patients had no evidence of a heritable trait and had negative family histories. Thirteen patients were members of six unrelated Mexican-American families. Sixty-four first-degree and second-degree relatives were examined, and family pedigrees were established. Most relatives (83 percent) were asymptomatic; 11 percent had seizures. Magnetic resonance imaging was performed in 16 relatives (5 of whom were asymptomatic). Fourteen of the 16 studies revealed cavernous malformations; 11 studies identified multiple lesions. As compared with computerized tomography and angiography, magnetic resonance imaging was far more accurate in detecting cavernous malformations. We conclude that cavernous malformations are more prevalent than previously reported, and that a familial form of the disorder exists that is more common than expected, with a high incidence of multiple lesions and an increased frequency of occurrence among Mexican-American families. Magnetic resonance imaging is the radiographic technique of choice for the identification and follow-up of these lesions.

Natural course of the arteriovenous malformations of the brain initially presented by hemorrhage – analysis of a clinical series of 39 patients

“…However, significant recovery was recorded in the group of patients who experienced more episodes of repeated bleeding. Statistical confirmation (p<0.035) that mean value of Karnofsky index is considerably higher in the group with repeated hemorrhages is in accordance with the results of Brown who presented a series of patients with AVM of the brain treated at the Mayo Clinic and stressed that an average of 12 months was needed for the recovery of the pyramidal deficit and cognitive functions, and that seemingly easy recovery may dissuade the patient from the proposed surgery (20).…”

“…Since AVMs of the brain do not have such a high risk of repeated hemorrhage as aneurysms and an average incidence of 0.14%, this makes possible elective approach when selecting the therapy option (surgery, embolization, radio surgery) (9,18,20,31).…”

Mapping a gene causing cerebral cavernous malformation to 7q11.2-q21.

“…Patients frequently are asymptomatic (40,70%) (3, 11, 12); symptomatic subjects typically present between ages 20 and 40, although symptoms can begin at any age (6,7,13). Patients commonly present with seizures (7, 14), brain hemorrhage (3,6,11,(13)(14)(15)(16)(17), focal neurological deficits (6, 11-13, 15), or headaches. Risk of bleeding from these lesions is in part dependent on age and the prior occurrence of hemorrhage from the same lesion (15,18).…”

“…§1734 solely to indicate this fact. subjects with seizures, and surgical excision of accessible lesions (11).While the pathogenesis of CCM is unknown, 30-50% of patients with cavernous malformation have been found to have one or more relatives with the disease (3, 4, 6, 17) and several large kindreds supporting autosomal dominant inheritance of the trait have been reported (3,17,20,21). These observations raise the possibility of using genetic approaches to define the pathogenesis of this disorder.…”

“…Cerebral cavernous malformation (CCM) (also known as angiomas, cavernous angiomas, cavernous hemangiomas, cavernous angiomatomas, or cavernomas) accounts for 10-20% of all vascular malformations (1,3). These lesions are characterized by collections of large, abnormal vascular spaces without intervening brain parenchyma (2).…”