Asymptomatic Familial Multiple Cerebral Cavernous Malformation in a 73-Year-Old Woman.

Case Reports in Radiology Pub Date : 2021-05-21 eCollection Date: 2021-01-01 DOI:10.1155/2021/9974776
Klenam Dzefi-Tettey, Emmanuel Kobina Mesi Edzie, Philip Narteh Gorleku, Henry Kusodzi, Abdul Raman Asemah
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Abstract

Cerebral cavernous malformations (CCMs) are dilated blood vessels which can develop sporadically or in familial form and are the commonest malformations of blood vessels in the spinal cord and brain. The familial form is an autosomal dominant gene mutation disorder. This condition can be diagnosed with magnetic resonance imaging (MRI) and computed tomography (CT) scan, but the modality of choice is MRI because of its high sensitivity. We report a case of a 73-year-old woman with an asymptomatic multiple familial cerebral cavernous malformation (FCCM) which was previously misdiagnosed as multiple cerebral metastases on CT scan. A brain MRI performed correctly diagnosed her condition as FCCM based on the typical MRI appearances. In order not to misdiagnose brain lesions like CCM on CT scan, for cerebral metastases in resource-poor settings, radiologists must recommend advanced imaging modalities like MRI for further evaluation, thereby avoiding unnecessary invasive surgical biopsies.

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1例73岁女性无症状家族性多发性脑海绵状血管瘤。
脑海绵状血管瘤(CCMs)是一种血管扩张的疾病,可偶发或呈家族性发展,是脊髓和大脑中最常见的血管畸形。家族形式是一种常染色体显性基因突变疾病。这种情况可以通过磁共振成像(MRI)和计算机断层扫描(CT)来诊断,但由于MRI的高灵敏度,因此选择的方式是MRI。我们报告一例73岁女性无症状多发性家族性脑海绵状血管瘤(FCCM),在CT扫描上被误诊为多发性脑转移瘤。根据典型的MRI表现,脑部MRI正确诊断为FCCM。为了避免在CT扫描中误诊CCM等脑病变,对于资源贫乏地区的脑转移,放射科医生必须推荐MRI等先进的成像方式进行进一步评估,从而避免不必要的侵入性手术活检。
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