RESUMO
Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) has always been considered to be a middle-age-onset disease. Diagnosis is confirmed by genetic testing and the finding of the Notch3 mutation or by skin biopsy. Imaging plays a pivotal and crucial role in confirming this diagnosis by identifying white matter changes early in the disease. This can be useful in screening symptomatic patients with a family history of the disease. CADASIL cases have been reported recently in children. We report our experience with CADASIL in a 3-year-old boy.
Assuntos
Encéfalo/patologia , CADASIL/diagnóstico , CADASIL/genética , Predisposição Genética para Doença/genética , Imageamento por Ressonância Magnética/métodos , Fibras Nervosas Mielinizadas/patologia , Receptores Notch/genética , Encéfalo/diagnóstico por imagem , Pré-Escolar , Cromossomos Humanos Par 16/genética , Diagnóstico Diferencial , Humanos , Masculino , Fibras Nervosas Mielinizadas/diagnóstico por imagem , Receptor Notch3 , Tomografia Computadorizada por Raios X/métodosRESUMO
We present a case of a symptomatic venous aneurysm that developed in the drainage network of a deep-seated basal ganglia and thalamic arteriovenous malformation. The venous aneurysm was treated selectively with platinum coils using a venous approach.
Assuntos
Angiografia Cerebral/métodos , Veias Cerebrais/cirurgia , Embolização Terapêutica/métodos , Malformações Arteriovenosas Intracranianas/diagnóstico , Malformações Arteriovenosas Intracranianas/cirurgia , Adolescente , Humanos , Masculino , Resultado do TratamentoRESUMO
OBJECTIVE: The objective of the study is to demonstrate the pitfalls in the diagnosis of cerebral venous thrombosis (CVT) especially when subarachnoid hemorrhage (SAH) is associated and discuss the diagnostic value of computed tomography (CT) imaging as well as the use of other diagnostic modalities. In addition, we will briefly summarize the pathophysiology of SAH in the setting of CVT. METHODS: We reviewed 16 articles, which included 26 different case reports of SAH associated with CVT. In addition, we presented our experience with a case of SAH secondary to CVT. RESULTS: Nonenhanced CT was able to detect SAH in 86% of cases and CVT in only 36%. Further imaging testing was necessary to further characterize the extent of the thrombosis. The location of the SAH varied, but it never involved the skull base. Risk factors for CVT development included hypercoagulable states, oral contraceptives use, history of recent fracture or surgery, family or personal history of deep vein thrombosis, smoking, and hyperlipidemia and migraines. Sixty-two percent of patients had acute onset severe headaches, 35% presented with nuchal rigidity, and 35% presented with seizures. CONCLUSIONS: Cerebral venous thrombosis must be considered in the differential diagnosis of patients presenting with a broad range of neurological presentations especially in the presence of new onset of seizures. Computed tomographic offers many clues to the diagnosis of CVT when concomitant SAH is present. These include the presence of SAH at cerebral convexities with associated basal cisterns and skull base sparing. Recognition of these subtleties will allow prompt and appropriate management and, when in doubt, encourage further investigations.
