Cavernomatosis múltiple cerebral familiar

Abstract

Intracraneal vascular malformations are congenital lesions due to alterations in the development of arteriocapillary network. Cavernomas are present in 0.4% of people, and represent 5-13% of all cerebrovascular malformations. They are multilobulated clearly delimited lesions that contain blood at different evolution. Cavernomas can be single or multiple, and sporadic or familial. Inheritance pattern in familial cases is autosomal dominant and three involved genes have been described. We made a retrospective review of clinical histories of two patients diagnosed of multiple familial cavernomatosis. First patient's onset was with partial seizures. Magnetic resonance (MR) showed a frontal cavernoma probable responsible of seizures, and other lesions in frontal and parietal lobes. Second patient consulted for psychomotor delay and behaviour disorder. MR showed multiple cavernomas. In the first patient, one lesion was surgically removed. In second patient, the attitude was expectant. In both cases familial study was done and multiple cavernomas were found in both parents. Cavernomas are a type of vascular malformations with specific histological features. Usual clinical characteristics are seizures and parenchymatous bleeding. The appearance of MR has permitted the diagnosis of asymptomatic cavernomas and is currently considered to be the technique of choice for this purpose. In familial cases, multiple lesions are found in 84%, often in association with family history of seizures. Surgical treatment must be considered in patients with symptomatic or progressive lesions that are accessible. All cases must be clinically and MR followed.