ABSTRACT
Familial (hereditary) cerebral cavernous malformations (CCM) are rare disorders, they have autosomal-dominant type of inheritance. We report 12 families of non-Hispanic descent in which 54 typical CCM were discovered. In 8 families CCM were identified in 2 generations, in 2 - in 3 generations. 46 lesions were supratentorial, 8 - subtentorial. Multiple lesions were present in 67% of cases. Manifestation was observed in 24 persons, including seizures in 17 and hemorrhage in 7. In 9 of 10 families onset of symptoms was earlier with every next generation. In one patient asymptomatic parietal CCM was associated with symptomatic posterior fossa AVM and cutaneous angioma. On the follow-up MRI revealed no new lesions. Surgical treatment was performed in 14 cases: in 13 patients 15 CCM were removed, and 1 patient underwent third ventriculostomy. The paper discusses evaluation and management of families with symptomatic and asymptomatic types of disease, trends and perspectives of further investigations.
Subject(s)
Brain/abnormalities , Brain/pathology , Genetic Diseases, Inborn/pathology , Pedigree , Family , Female , Genetic Diseases, Inborn/genetics , Genetic Diseases, Inborn/therapy , Hemangioma/genetics , Hemangioma/pathology , Hemangioma/therapy , Humans , Intracranial Hemorrhages/genetics , Intracranial Hemorrhages/pathology , Intracranial Hemorrhages/therapy , Magnetic Resonance Imaging , Male , Retrospective Studies , Seizures/genetics , Seizures/pathology , Seizures/therapy , Skin Neoplasms/genetics , Skin Neoplasms/pathology , Skin Neoplasms/therapyABSTRACT
In the past decade, there has been a clear trend for the use of low-invasive surgical interventions in many divisions of neurosurgery. Since each operation is bound to be followed by tissue traumatization, a decrease in the sizes of skull trepanation should be regarded as a way of reducing the incidence of intra- and extracranial complications. The proposed variant of a pterion access to intracranial aneurysms by using small trepanation holes may substantially decrease the duration of surgical interventions and to avoid postoperative epidural and subdural hematomas without preventing the visualization of arteries in both anterior and posterior Willis' circle and at the same time the variant exerts no negative effect on the possibilities of hemostasis in intraoperative aneurysm rupture. The operation yields a good cosmetic effect.