Yilmaz Sanem, Serdaroglu Gul, Unver Hale, Akcay Ayfer, Gokben Sarenur, Tekgul Hasan
Division of Child Neurology, Department of Pediatrics, Ege University Medical School, Bornova-Izmir, Turkey.
J Child Neurol. 2011 Jul;26(7):881-4. doi: 10.1177/0883073810391905. Epub 2011 Apr 15.
Pseudotumor cerebri with or without venous sinus thrombosis is a rare clinical presentation of Behçet disease in childhood. We present here a case of childhood pseudotumor cerebri without a previous diagnosis of Behçet disease. The detailed history and physical examination of the case led to the diagnosis of neuro-Behçet disease. The investigation of predisposition to thrombosis revealed heterozygous factor V Leiden mutation along with the high lipoprotein(a) level. The symptoms resolved dramatically by treatment with the combination of immunosuppression and anticoagulation with regard to the detected factor V Leiden mutation and high lipoprotein(a) level. After a symptom-free period of 9 months, the cerebral vein thrombosis recurred. We present this case to draw attention to this rare cause of pseudotumor cerebri in childhood and to emphasize the importance of additional thrombotic risk factors regarding the potential recurrence of thrombotic events in Behçet disease.
伴或不伴有静脉窦血栓形成的假瘤型脑(积水)是白塞病在儿童期的一种罕见临床表现。我们在此报告一例此前未诊断为白塞病的儿童假瘤型脑(积水)病例。对该病例的详细病史和体格检查导致了神经白塞病的诊断。对血栓形成易感性的调查发现了杂合子因子V莱顿突变以及高脂蛋白(a)水平。针对检测到的因子V莱顿突变和高脂蛋白(a)水平,通过免疫抑制和抗凝联合治疗,症状显著缓解。在无症状9个月后,脑静脉血栓复发。我们展示此病例以引起对儿童期这种罕见的假瘤型脑(积水)病因的关注,并强调关于白塞病血栓形成事件潜在复发的其他血栓形成危险因素的重要性。