El Hasbani Georges, Balaghi Alaa, Assaker Richard, Rojas Alberto, Troya Marcelo, Kofahi Ahmad, Assaker Jean Pierre, Diab Chadi, Al Husayni Husayn
American University of Beirut, Beirut, Lebanon.
Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Blat, Lebanon.
Radiol Case Rep. 2019 Nov 12;15(1):95-99. doi: 10.1016/j.radcr.2019.10.028. eCollection 2020 Jan.
Prothrombotic conditions are known risk factors for porencephalic cyst formation and cerebral vein thrombosis. Intracerebral hemorrhage is a potential complication of a cerebral vein thrombosis. Porencephaly is a risk factor for intracerebral hemorrhage and cerebral vein thrombosis formation. We present the case of an adult patient with a past medical history of epilepsy and congenital porencephalic cyst with de novo mutation of the COL4A1 gene who presented for episodes of generalized tonic-clonic seizure after a substantial symptom-free period. A brain CT scan showed an intracerebral hemorrhage with porencephalic cyst and superior sagittal sinus thrombosis despite negative thrombophilia work-up. A CT perfusion study, CT angiography, and brain MRI confirmed the diagnosis. The cause-and-effect relationship between porencephalic cysts, cerebral venous thrombosis, and intracerebral hemorrhage is still not clear in the literature.
血栓前状态是脑穿通畸形囊肿形成和脑静脉血栓形成的已知危险因素。脑出血是脑静脉血栓形成的潜在并发症。脑穿通畸形是脑出血和脑静脉血栓形成的危险因素。我们报告一例成年患者，既往有癫痫病史和先天性脑穿通畸形囊肿，伴有COL4A1基因的新发突变，在一段无症状期后出现全身强直阵挛发作。脑部CT扫描显示脑内出血合并脑穿通畸形囊肿及上矢状窦血栓形成，尽管血栓形成倾向检查结果为阴性。CT灌注研究、CT血管造影和脑部MRI确诊了该疾病。脑穿通畸形囊肿、脑静脉血栓形成和脑出血之间的因果关系在文献中仍不明确。
