Moore David F, Ye Frank, Schiffmann Raphael, Butman John A
Developmental and Metabolic Neurology Branch, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Building 10, 9000 Rockville Pike, Bethesda, MD 20892, USA.
AJNR Am J Neuroradiol. 2003 Jun-Jul;24(6):1096-101.
Fabry disease is a multisystem X-linked disorder characterized clinically by angiokeratoma, corneal and lenticular abnormalities, acroparesthesia, and renal and cardiac dysfunction and stroke. We sought to describe novel neuroimaging characteristics of Fabry disease.
Neuroradiologic records of 104 hemizygous patients with Fabry disease evaluated between 1994 and 2002 were reviewed. In total, 94 MR studies consisting of T1- and T2-weighted images were examined for the presence of hyperintensity on the T1-weighted images. Additional CT, gradient-echo (T2*-weighted), and fat-suppression MR studies were reviewed to characterize further the T1 abnormality in selected patients. In some patients, cerebral blood flow (CBF) was quantified by using arterial spin tagging (AST).
Overall, 22 patients ( approximately 23%) demonstrated pulvinar hyperintensity on T1-weighted images; the frequency increased with age to over 30% by age 50 years. Susceptibility-weighted T2* studies demonstrated a low-signal-intensity abnormality in the pulvinar in the more severe cases, whereas CT demonstrated the pulvinar to be mineralized. CT attenuation corresponded with an increasing signal intensity on T1-weighted images. Posterior circulation CBF was found to be elevated on individual AST studies, especially in the thalamus.
Hyperintensity in the pulvinar on T1-weighted images is a common finding in Fabry disease, likely reflecting the presence of calcification. Although other minreralizing abnormalities may result in calcification of deep gray nuclei, exclusive involvement of the pulvinar may be distinctively characteristic to Fabry disease. Increased CBF in the posterior circulation, particularly the thalamus, suggests that the dystrophic calcification is secondary to cerebral hyperperfusion and selective vulnerability of the pulvinar and adjacent thalamic nuclei. The finding of isolated pulvinar hyperintensity on T1-weighted images should suggest Fabry disease, particularly when seen in conjunction with other nonspecific neuroradiologic manifestations of the disease.
法布里病是一种多系统X连锁疾病，临床特征为血管角质瘤、角膜和晶状体异常、肢端感觉异常、肾和心脏功能障碍以及中风。我们试图描述法布里病新的神经影像学特征。
回顾了1994年至2002年间评估的104例半合子法布里病患者的神经放射学记录。总共检查了94项包含T1加权和T2加权图像的磁共振成像（MR）研究，以确定T1加权图像上是否存在高信号。还回顾了额外的计算机断层扫描（CT）、梯度回波（T2*加权）和脂肪抑制MR研究，以进一步明确部分患者的T1异常特征。在一些患者中，使用动脉自旋标记（AST）对脑血流量（CBF）进行了量化。
总体而言，22例患者（约23%）在T1加权图像上显示丘脑枕高信号；该频率随年龄增加，到50岁时超过30%。在病情较重的病例中，敏感性加权T2*研究显示丘脑枕存在低信号强度异常，而CT显示丘脑枕有矿化。CT衰减与T1加权图像上信号强度增加相对应。在个别AST研究中发现后循环CBF升高，尤其是在丘脑。
T1加权图像上丘脑枕高信号是法布里病的常见表现，可能反映了钙化的存在。虽然其他矿化异常可能导致深部灰质核钙化，但仅丘脑枕受累可能是法布里病的独特特征。后循环，尤其是丘脑的CBF增加，提示营养不良性钙化继发于脑血流灌注过多以及丘脑枕和相邻丘脑核的选择性易损性。T1加权图像上孤立的丘脑枕高信号这一发现应提示法布里病，尤其是当与该疾病的其他非特异性神经放射学表现同时出现时。
