Cerebral cavernous malformations associated to meningioma: High penetrance in a novel family mutated in the PDCD10 gene.

Multiple familial meningiomas occur in rare genetic syndromes, particularly neurofibromatosis type 2. The association of meningiomas and cerebral cavernous malformations (CCMs) has been reported in few patients in the medical literature. The purpose of our study is to corroborate a preferential association of CCMs and multiple meningiomas in subjects harbouring mutations in the PDCD10 gene (also known as CCM3). Three members of an Italian family affected by seizures underwent conventional brain Magnetic Resonance Imaging (MRI) with gadolinium contrast agent including gradient echo (GRE) imaging. The three CCM-causative genes were sequenced by Sanger method. Literature data reporting patients with coexistence of CCMs and meningiomas were reviewed. MRI demonstrated dural-based meningioma-like lesions associated to multiple parenchymal CCMs in all affected individuals. A disease-causative mutation in the PDCD10 gene (p.Gln112PhefsX13) was identified. Based on neuroradiological and molecular data as well as on literature review, we outline a consistent association between PDCD10 mutations and a syndrome of CCMs with multiple meningiomas. This condition should be considered in the differential diagnosis of multiple/familial meningioma syndromes. In case of multiple/familial meningioma the use of appropriate MRI technique may include GRE and/or susceptibility-weighted imaging (SWI) to rule out CCM. By contrast, proper post-gadolinium scans may aid defining dural lesions in CCM patients and are indicated in PDCD10-mutated individuals.

Thorax: new millennium vascular imaging.

In recent years the technological development of computed tomography (CT) and magnetic resonance (MR) has promoted new improvements in diagnosis by means of imaging. In particular the introduction of multislice CT and MR angiography (MRA) has broadened the non-invasive diagnostic possibilities in the vascular study of the thorax. The new technological developments of CT and MR enable functional studies as well. Recent studies have demonstrated that CT and MR are as accurate in finding the vascular anomalies as digital subtraction angiography, while they are more precise in recognising possible associated pathologies which modify therapeutic treatment (for example of the trachea, bronchi, oesophagus etc.). There are many vascular structures in the thorax which need to be considered (aorta, pulmonary and coronary arteries, pulmonary veins, vena cava). The field of associated pathologies is also broad, and includes congenital vascular anomalies, vascular malformations, aorta dissection, vascular compression syndromes, atherosclerotic stenosis or occlusions, and pulmonary embolism. In pulmonary embolism some authors have demonstrated the utility of CT, in showing pulmonary segmental perfusion defects, and MRA, in identifying sub-segment pulmonary embolism. In this paper we analyse the most important CT and MR applications for the study of vascular thoracic diseases and compare them with other diagnostic techniques. We also evaluate the morpho-functional capabilities of CT and MR in this field.