RESUMEN
We report on a patient with 2 Mendelian diseases-symptomatic multiple familial cerebral cavernous malformations (FCCMs) and Wilson disease. Genetic analysis revealed single nucleotide polymorphisms in genes CCM2 and CCM3, associated with cavernous malformations, and homozygote mutation in the ATP7B gene, responsible for Wilson disease. FCCMs were symptomatic in 3 generations. The patient also had multiple lipomatosis, which is suggested to be a familial syndrome. In recent years there has been an increasing amount of publications linking FCCMs with other pathology, predominantly with extracranial and intracranial mesenchymal anomalies. The present study is the description of an unusual association between 2 independent hereditary diseases of confirmed genetic origin-a combination that has not been described previously.
Asunto(s)
Hemangioma Cavernoso del Sistema Nervioso Central/complicaciones , Degeneración Hepatolenticular/complicaciones , Lipoma/complicaciones , Proteínas Reguladoras de la Apoptosis/genética , Encéfalo/diagnóstico por imagen , Proteínas Portadoras/genética , Salud de la Familia , Femenino , Estudios de Seguimiento , Hemangioma Cavernoso del Sistema Nervioso Central/diagnóstico por imagen , Hemangioma Cavernoso del Sistema Nervioso Central/genética , Hemangioma Cavernoso del Sistema Nervioso Central/cirugía , Degeneración Hepatolenticular/diagnóstico por imagen , Degeneración Hepatolenticular/cirugía , Humanos , Lipoma/diagnóstico por imagen , Lipoma/genética , Lipoma/cirugía , Imagen por Resonancia Magnética , Proteínas de la Membrana/genética , Persona de Mediana Edad , Mutación/genética , Proteínas Proto-Oncogénicas/genética , Ventriculostomía/métodosRESUMEN
BACKGROUND: Microsurgical treatment of large and giant paraclinoid internal carotid artery (ICA) aneurysms often requires the use of the retrograde suction decompression (RSD) technique to facilitate clipping. Surgical results, functional outcomes at discharge, and technique limitations based on single institution series are presented. MATERIALS AND METHODS: Between 1996 and 2009, eighty-three consecutive patients (19 to 68 years, mean 45.5 ± 9.9 years), predominantly women (69 women and 14 men) with large (23 patients, 27.7%) or giant (60 patients, 72.3%) paraclinoid aneurysms were surgically treated with the RSD technique performed by the neck route (62 patients, 74.4%) or later on, by endovascular means (21 patients, 25.3%). Patients were admitted after hemorrhage (48 patients, 57.9%), pseudotumor course (28 patients, 33.7%), mixed symptoms (5 patients, 6%), or asymptomatic (2 patients, 2.4%). RESULTS: In most RSD surgeries (90.4%) aneurysms were successfully excluded: neck was clipped in 57 patients (68.7%) or clipping with ICA reconstruction was achieved in 18 patients (21.7%). In six patients aneurysms were wrapped with glue (7.2%), trapped in one patient (1.2%), and in one patient, ICA balloon deconstruction was performed (1.2%). Good or excellent results (Glasgow Outcome Scale scores 4-5) at discharge were achieved in 69 patients (83.1%), 11 patients (13.3%) remained severely disabled (Glasgow Outcome Scale 3), and 3 patients died (3.6%). CONCLUSIONS: Surgical clipping with the RSD method remains a treatment of choice with acceptable outcomes for patients not amenable for endovascular treatment.
