Burlina Alessandro P, Manara Renzo, Caillaud Catherine, Laissy Jean-Pierre, Severino Mariasavina, Klein Isabelle, Burlina Alberto, Lidove Olivier
Dept. of Neuroscience, Neurological Clinic, University Hospital of Padova, Italy.
J Neurol. 2008 May;255(5):738-44. doi: 10.1007/s00415-008-0786-x. Epub 2008 Feb 26.
Fabry disease is an X-linked lysosomal deficiency of alpha-galactosidase A that results in cellular accumulation of galactoconjugates, mainly globotriaosylceramide, particularly in blood vessels. Neuroradiological findings include ischemic stroke, white matter lesions, vascular abnormalities (vertebrobasilar dolichoectasia and vessel tortuosity), and posterior thalamus involvement (the so called pulvinar sign). The purpose of our study was to investigate the presence of the increased pulvinar signal intensity on T1-weighted imaging - pulvinar sign and its relationship with other clinical findings, in a non-selected cohort of Fabry patients.
We performed a prospective analysis of two populations of patients (36 subjects) with Fabry disease. Patients were followed-up at the Department of Internal Medicine of the Bichat Hospital in Paris (France) and at the Neurological Clinic of the University Hospital of Padova (Italy). Brain MR studies of each patient included T1- and T2- weighted images, FLAIR sequences, and in some cases diffusion weighted images.
A total of 36 patients (16 males, 20 females) were investigated in 14 families. The pulvinar sign was found in 5 male patients, but not in female patients. Seven patients had had at least one stroke (territorial or lacunar). There was no correlation between stroke and the pulvinar sign. All patients with the pulvinar sign had hypertrophic cardiomyopathy. Four patients out of five with the pulvinar sign were on dialysis or had a kidney transplantation.
Our findings suggest that the pulvinar sign is a highly specific sign of Fabry disease, found in male patients with cardiac signs and severe kidney involvement.
法布里病是一种X连锁的α-半乳糖苷酶A溶酶体缺乏症，导致半乳糖结合物在细胞内蓄积，主要是球三糖神经酰胺，尤其在血管中。神经放射学表现包括缺血性卒中、白质病变、血管异常（椎基底动脉延长扩张和血管迂曲）以及丘脑后部受累（所谓的丘脑枕征）。我们研究的目的是在一组未经选择的法布里病患者队列中，调查T1加权成像上丘脑枕信号强度增加（丘脑枕征）的存在情况及其与其他临床发现的关系。
我们对两组法布里病患者（36名受试者）进行了前瞻性分析。患者在法国巴黎比夏医院内科和意大利帕多瓦大学医院神经科诊所接受随访。每位患者的脑部磁共振研究包括T1加权和T2加权图像、液体衰减反转恢复序列，在某些情况下还包括弥散加权图像。
共对14个家庭的36名患者（16名男性，20名女性）进行了调查。5名男性患者发现有丘脑枕征，女性患者未发现。7名患者至少发生过一次卒中（区域性或腔隙性）。卒中和丘脑枕征之间无相关性。所有有丘脑枕征的患者都有肥厚型心肌病。5名有丘脑枕征的患者中有4名正在接受透析或已接受肾移植。
我们的研究结果表明，丘脑枕征是法布里病的一种高度特异性体征，见于有心脏体征和严重肾脏受累的男性患者。
