Supratentorial cerebral cavernous malformations: clinical, surgical, and genetic involvement

Abstract

<jats:sec> <jats:title>Object</jats:title> <jats:p>Although there is general agreement on the methods of treatment for symptomatic supratentorial cerebral cavernous malformations (CMs) located in noneloquent areas, some controversy exists regarding the management of cerebral CMs that are asymptomatic and/or located in eloquent or deep areas. Moreover, recent advances in genetic findings could influence both standard clinical management and the follow-up strategy in affected individuals. Thus, the objective of this study was to develop, based on the authors' experience and a literature review, a management algorithm to deal with supratentorial cerebral CMs.</jats:p></jats:sec> <jats:sec> <jats:title>Methods</jats:title> <jats:p>The authors retrospectively reviewed the clinical data related to 118 patients who underwent surgery for symptomatic supratentorial cerebral CMs at their institution. Twenty-eight of 118 patients harbored multiple lesions, and nine of these 28 patients had a clinically positive familial history. Genetic investigations were performed in 89 patients (75%).</jats:p></jats:sec> <jats:sec> <jats:title>Conclusions</jats:title> <jats:p>Surgery for supratentorial cerebral CMs in noneloquent locations is safe and curative. In cerebral CMs located in deep and eloquent areas and with symptoms including progressive neurological deficits, evidence of hemorrhage, and uncontrolled seizures, surgical treatment according to an integrated plan based on frameless stereotactic guidance and functional magnetic resonance imaging is recommended and results in acceptably low morbidity. The data support the need for long-term imaging follow up in all patients, careful preoperative vascular studies to detect associated venous anomalies, and the importance of genetic mutational analysis. The DNA screening protocol will change the care of family members of patients with familial forms of cerebral CMs, because affected asymptomatic family members may benefit by early detection of lesions. At the same time, the exclusion of family members who are not carriers of the mutation as members of the population at risk reduces the economic and psychological burden of clinical and instrumental monitoring.</jats:p></jats:sec>

Angioma cavernoso cerebral gigante en paciente menor de un año: descripción de un caso

“…Por ejemplo, sobre 118 angiomas cavernosos tratados por D´Angelo y cols. 4 , ningún paciente tenía menos de 19 meses de vida. Según Ng y cols.…”

“…En la serie de D´Angelo y cols. 4 , las medidas de los angiomas cavernosos resecados fueron entre 4 y 60 mm, con una media de 26 mm. Es la combinación de un angioma cavernoso gigante en un niño menor de un año, lo que motiva nuestro reporte.…”

“…Desde el punto de vista anatomopatológico, se trata de canales vasculares sinusoidales, de paredes delgadas, sin laminina, ni elastina y con pocas o ninguna fibras musculares 4 .…”

“…Muchas veces son descubiertos de forma incidental y al momento del diagnós-tico, entre 10 y 50% de los individuos presentan angiomas cavernosos múltiples 4,8 . Para Cavalheiro y Menezes Braga 3 , las formas múltiples son menos frecuentes en niños.…”

“…Pueden presentarse bajo múltiples formas clínicas o ser asintomáticos. De aquéllos que son sintomáticos, la mayoría se presentan con crisis 1,4,8 . El diagnóstico de estas lesiones ha aumentado en las últimas dos décadas por la accesibilidad cada vez mayor a estudios de imagen, en particular la Imagen por Resonancia Magnética (IRM).…”